Napad nieświadomości
Etiologia i przyczyny

Napady nieświadomości (absence) to uogólnione napady padaczkowe charakteryzujące się krótkotrwałą utratą świadomości i typowym wzorcem EEG – uogólnionymi, symetrycznymi wyładowaniami iglica-fala o częstotliwości 3 Hz. Etiologia jest wieloczynnikowa, z dominującym podłożem genetycznym o poligenowym i wieloczynnikowym charakterze. Mutacje dotyczą głównie genów kodujących kanały jonowe (CACNA1H, CACNG3, CLCN2) oraz receptory neuroprzekaźników (GABRA1, GABRB3, GABRG2, CHRNA4, GRM4). Występują także mikrodelecje CNV w regionach 15q11.2, 15q13.3 i 16p13.11. Napady te najczęściej pojawiają się u dzieci w wieku 4-14 lat, z największą częstością między 6 a 7 rokiem życia, częściej u dziewcząt. Czynniki wyzwalające to m.in. hiperwentylacja, fotostymulacja, deprywacja snu oraz nieprzestrzeganie zaleceń terapeutycznych. Niektóre leki przeciwpadaczkowe (fenytoina, karbamazepina, wigabatryna, gabapentyna, okskarbazepina, pregabalina, tiagabina) mogą nasilać napady nieświadomości, co ma istotne znaczenie przy doborze terapii.

Etiologia napadów nieświadomości

Napady nieświadomości (napady typu absence, dawniej określane jako napady petit mal) są rodzajem napadów uogólnionych, charakteryzujących się krótkotrwałą utratą świadomości i zaburzeniami aktywności elektrycznej obejmującej obie półkule mózgu. Etiologia napadów nieświadomości jest wieloczynnikowa, jednak dominującą rolę odgrywają czynniki genetyczne.123 Dokładny mechanizm powstawania tych napadów nie został w pełni poznany, a przyczyny mogą różnić się w zależności od wieku pacjenta oraz typu napadu.

Czynniki genetyczne

Badania wykazują, że napady nieświadomości mają silny komponent genetyczny. U około 15-40% pacjentów z napadami nieświadomości występuje rodzinny wywiad w kierunku padaczki.4 Zgodność u bliźniąt jednojajowych wynosi około 74%, ze wzrostem do 100% w szczytowym wieku ekspresji fenotypowej.5 Około 25% dzieci cierpiących na napady nieświadomości ma krewnego, który również doświadcza napadów padaczkowych.6

Dziedziczenie napadów nieświadomości nie podlega prostemu modelowi autosomalnie recesywnemu ani dominującemu, lecz jest uważane za wieloczynnikowe i poligenowe.78 Badania genetyczne wykazały, że padaczki z napadami nieświadomości to kanałopatie, w których występują mutacje genów kodujących:910

  • Kanały wapniowe zależne od napięcia (CACNA1H, CACNG3)
  • Kanały chlorkowe (CLCN2)
  • Receptory GABA (GABRA1, GABRB3, GABRG2)
  • Receptory acetylocholinowe (CHRNA4)
  • Receptory glutaminergiczne (GRM4)

1112

Odkryto również warianty liczby kopii (CNV), takie jak mikrodelecje w regionach 15q11.2, 15q13.3 i 16p13.11, które są związane z dziecięcą padaczką nieświadomości (CAE).1314 Mimo tych odkryć, dokładny sposób dziedziczenia i większość genów zaangażowanych w napady nieświadomości pozostają nieznane.15

Badania wykazały również, że dziecięca padaczka nieświadomości z napadami toniczno-klonicznymi została powiązana z chromosomem 8q24 w 5-pokoleniowej rodzinie z Bombaju, podczas gdy dziecięca padaczka nieświadomości z drgawkami gorączkowymi została powiązana z podjednostką 2 receptora GABA(A) (GABRG2) na chromosomie 5q3.1-33.1.16 Mutacja w genie receptora GABA(A) GABRB3 została znaleziona w meksykańskich rodzinach z dziecięcą padaczką nieświadomości.17

Mechanizmy neurofizjologiczne

Napady nieświadomości powstają w wyniku nieprawidłowej aktywności elektrycznej w mózgu.1819 Podczas napadu nieświadomości neurony (komórki nerwowe) otrzymują błędne instrukcje i wysyłają zbyt wiele sygnałów elektrycznych do różnych części mózgu.20

Charakterystycznym wzorcem aktywności EEG podczas napadów nieświadomości są uogólnione, symetryczne wyładowania typu iglica-fala z częstotliwością 3 Hz.21 Podczas napadu nieświadomości impulsy elektryczne powtarzają się w charakterystycznym tróhsekundowym wzorcu.2223

Osoby doświadczające napadów nieświadomości mogą mieć również zmienione poziomy neurotransmiterów, które pomagają komórkom nerwowym komunikować się między sobą.2425 Szczególne znaczenie mają zmiany w układzie GABA-ergicznym oraz glutaminergicznym, które odgrywają kluczową rolę w patofizjologii napadów nieświadomości.26

Nowsze badania wskazują, że napady nieświadomości mogą mieć bardziej złożony mechanizm niż wcześniej sądzono. Dane z badań strukturalnych i funkcjonalnych z wykorzystaniem ilościowej elektroencefalografii (EEG), monitorowania wideo-EEG, magnetoencefalografii, obrazowania rezonansem magnetycznym i pozytonowej tomografii emisyjnej sugerują spektrum nozologiczne od ogniskowych do uogólnionych mechanizmów generowania napadów.27 Płat czołowy z jego projekcjami do innych obszarów mózgu może odgrywać ważną rolę w uogólnionych napadach nieświadomości.28

Czynniki wyzwalające

Choć napady nieświadomości mają podłoże genetyczne, istnieją czynniki, które mogą je wyzwalać:29

  • Hiperwentylacja – szybkie lub głębokie oddychanie jest znanym czynnikiem wyzwalającym napady nieświadomości u podatnych osób303132
  • Migające światłafotostymulacja może prowokować napady u niektórych pacjentów3334
  • Deprywacja snu – niewystarczająca ilość snu może zwiększać prawdopodobieństwo wystąpienia napadów3536
  • Nieprzyjmowanie leków przeciwpadaczkowych zgodnie z zaleceniami lub ich nagłe odstawienie3738

Czynniki ryzyka

Istnieją określone czynniki ryzyka, które mogą zwiększać prawdopodobieństwo wystąpienia napadów nieświadomości:39

  • Wiek – napady nieświadomości najczęściej występują u dzieci w wieku 4-14 lat, z największą częstotliwością w wieku 6-7 lat4041
  • Płeć – napady nieświadomości częściej występują u dziewcząt niż u chłopców4243
  • Wywiad rodzinny – osoby z krewnymi cierpiącymi na padaczkę mają zwiększone ryzyko rozwoju napadów nieświadomości44

Jatrogenne przyczyny napadów nieświadomości

Niektóre leki przeciwpadaczkowe mogą paradoksalnie zwiększać ryzyko wystąpienia lub nasilać napady nieświadomości. Do leków tych należą:454647

  • Fenytoina
  • Karbamazepina
  • Wigabatryna
  • Gabapentyna
  • Okskarbazepina
  • Pregabalina
  • Tiagabina

48

Te leki przeciwpadaczkowe są skuteczne w leczeniu napadów ogniskowych, ale mogą nasilać napady uogólnione, w tym napady nieświadomości, co jest istotną informacją przy wyborze odpowiedniej terapii farmakologicznej.49

Choroby współistniejące i rzadsze przyczyny

W niektórych przypadkach napady nieświadomości mogą być związane z innymi schorzeniami lub występować jako ich element:50

  • Choroby autoimmunologiczne – takie jak choroba Crohna czy encefalopatia Hashimoto mogą być powiązane z napadami nieświadomości51
  • Zaburzenia metaboliczne – szczególnie zespół niedoboru transportera glukozy typu 1 (Glut1), który uniemożliwia prawidłowy transport cukru z krwi do mózgu5253
  • Zaburzenia psychiczne – istnieje związek między napadami nieświadomości a depresją i lękiem, ze wspólnymi szlakami genetycznymi i mózgowymi54
  • Ciężkie zespoły padaczkowe – napady nieświadomości mogą być częścią zespołów takich jak zespół Lennox-Gastaut, zespół Dravet czy zespół Retta5556

Typy napadów nieświadomości a etiologia

Napady nieświadomości można podzielić na dwa główne typy, które różnią się etiologią i obrazem klinicznym:5758

Typowe napady nieświadomości

Typowe napady nieświadomości występują najczęściej u dzieci z idiopatyczną (genetyczną) padaczką uogólnioną.59 Charakteryzują się nagłym początkiem i zakończeniem, krótkim czasem trwania (zwykle poniżej 20 sekund) i brakiem istotnych objawów ruchowych.60 Główne zespoły padaczkowe związane z typowymi napadami nieświadomości to:61

  • Dziecięca padaczka nieświadomości (CAE) – najczęściej rozpoczyna się między 4 a 12 rokiem życia62
  • Młodzieńcza padaczka nieświadomości (JAE) – zazwyczaj pojawia się w późniejszym wieku niż CAE63
  • Młodzieńcza padaczka miokloniczna (JME) – może zawierać napady nieświadomości jako jeden z typów napadów64

Atypowe napady nieświadomości

Atypowe napady nieświadomości występują najczęściej u pacjentów z zaburzeniami neurokognitywnymi i encefalopatią padaczkową.65 Charakteryzują się mniej nagłym początkiem i zakończeniem, dłuższym czasem trwania i towarzyszącymi objawami ruchowymi.66 Te napady często występują w ramach:

  • Zespołu Lennox-Gastaut – ciężkiego zespołu padaczkowego z wieloma typami napadów67
  • Innych encefalopatii padaczkowych i rozwojowych – takich jak zespół Dravet czy zespół Retta68

Stan napadowy nieświadomości

Stan napadowy nieświadomości (absence status epilepticus) to przedłużony napad nieświadomości, który może trwać godzinami, a nawet dniami.69 Podobnie jak w przypadku zwykłych napadów nieświadomości, stan napadowy można podzielić na typowy i atypowy. Etiologia stanu napadowego nieświadomości obejmuje:7071

  • Nieprzestrzeganie zaleceń dotyczących przyjmowania leków przeciwpadaczkowych
  • Niewłaściwe leczenie przeciwpadaczkowe (np. stosowanie leków takich jak tiagabina, karbamazepina)
  • Wprowadzenie lub odstawienie niektórych leków
  • Zatrucia
  • Zaburzenia elektrolitowe lub metaboliczne
  • Ciężkie niedotlenienie mózgu lub inne uszkodzenia mózgu

Stan napadowy nieświadomości może również pojawić się de novo, głównie u dorosłych bez wcześniejszej historii padaczki, w tym u kobiet w ciąży i pacjentów wracających do zdrowia po infekcji COVID-19.72

Podsumowanie etiologii napadów nieświadomości

Etiologia napadów nieświadomości jest złożona i wieloczynnikowa. Główne przyczyny i czynniki związane z napadami nieświadomości obejmują:

  • Podłoże genetyczne – poligenowe dziedziczenie z niepełną penetracją, wpływające głównie na kanały jonowe i receptory neuroprzekaźników7374
  • Zaburzenia neurobiologiczne – nieprawidłowa aktywność elektryczna w sieci korowo-wzgórzowo-korowej7576
  • Czynniki wyzwalającehiperwentylacja, deprywacja snu, fotostymulacja7778
  • Czynniki jatrogenne – niektóre leki przeciwpadaczkowe mogą wyzwalać lub nasilać napady nieświadomości7980
  • Zaburzenia współistniejące – metaboliczne, autoimmunologiczne lub strukturalne patologie mózgu8182

Zrozumienie złożonej etiologii napadów nieświadomości ma kluczowe znaczenie dla właściwej diagnostyki, leczenia oraz prowadzenia pacjentów. Dalsze badania genetyczne oraz badania nad mechanizmami neurofizjologicznymi mogą prowadzić do lepszego zrozumienia przyczyn napadów nieświadomości i rozwoju bardziej ukierunkowanych metod terapeutycznych.

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  1. 17.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Absence seizure // Middlesex Health
    https://middlesexhealth.org/learning-center/diseases-and-conditions/absence-seizure
    Absence seizures usually have a genetic cause. […] In general, seizures occur as a result of a burst of electrical impulses from nerve cells in the brain, called neurons. […] In people who have seizures, the brain’s usual electrical activity is altered. During an absence seizure, these electrical signals repeat themselves over and over in a three-second pattern. […] People who have seizures also may have altered levels of the chemical messengers that help the nerve cells communicate with one another. These chemical messengers are called neurotransmitters.
  • #2 Absence Seizure: What It Is, Triggers, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/22194-absence-seizures
    Absence seizures are a type of generalized seizure. They’re either typical or atypical. A healthcare provider can help you manage these seizures with medications. […] A burst of electrical activity in your brain causes an absence seizure. The neurons (nerve cells) receive the wrong instructions and send too many electrical signals to different parts of your brain. […] Researchers believe that genetics may play a role. Studies are ongoing to learn more about the inheritance and specific genes involved in absence seizures. […] Unfortunately, there isn’t a way to prevent the onset of absence seizures since the most likely cause is genetics. Once they are diagnosed, the best way to prevent them is by following closely with your healthcare provider and taking medications as directed.
  • #3 Absence Seizures (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/childhood-absence-epilepsy.html
    Absence seizures are thought to be genetic, though a child might not always have a family member who has seizures or epilepsy. Sometimes seizures are from gene mutations. […] Anyone can get absence seizures, but they are more likely in: children ages 4-14 years, people who have a family member with absence seizures, girls.
  • #4 Absence Seizures: Overview, Etiology, Epidemiology
    https://emedicine.medscape.com/article/1183858-overview
    The etiology of idiopathic epilepsies with age-related onset is genetic. About 15-40% of patients with these epilepsies have a family history of epilepsy; overall concordance in monozygotic twins is 74%, with a 100% concordance during the peak age of phenotypic expression. Family members may have other forms of idiopathic or genetic epilepsy (eg, febrile convulsions, generalized tonic-clonic seizures). […] The idiopathic generalized epilepsies are a group of primary generalized epilepsies with absence, myoclonic, and tonic-clonic seizures. Based on age of onset and seizure types, some can be grouped into well-recognized syndromes, such as childhood absence epilepsy, juvenile absence epilepsy, and juvenile myoclonic epilepsy. […] However, patients with other syndromes, such as generalized epilepsy with febrile seizures plus (GEFS+), as well as patients who have childhood absence epilepsy that leads into juvenile myoclonic epilepsy, illustrate that these syndromes represent a genetically determined lower threshold to have seizures.
  • #5 Absence Seizures: Overview, Etiology, Epidemiology
    https://emedicine.medscape.com/article/1183858-overview
    The etiology of idiopathic epilepsies with age-related onset is genetic. About 15-40% of patients with these epilepsies have a family history of epilepsy; overall concordance in monozygotic twins is 74%, with a 100% concordance during the peak age of phenotypic expression. Family members may have other forms of idiopathic or genetic epilepsy (eg, febrile convulsions, generalized tonic-clonic seizures). […] The idiopathic generalized epilepsies are a group of primary generalized epilepsies with absence, myoclonic, and tonic-clonic seizures. Based on age of onset and seizure types, some can be grouped into well-recognized syndromes, such as childhood absence epilepsy, juvenile absence epilepsy, and juvenile myoclonic epilepsy. […] However, patients with other syndromes, such as generalized epilepsy with febrile seizures plus (GEFS+), as well as patients who have childhood absence epilepsy that leads into juvenile myoclonic epilepsy, illustrate that these syndromes represent a genetically determined lower threshold to have seizures.
  • #6 Absence seizure – Wikipedia
    https://en.wikipedia.org/wiki/Absence_seizure
    Absence seizures are characterized by a brief loss and return of consciousness, generally not followed by a period of lethargy (i.e. without a notable postictal state). […] An absence seizure is specifically caused by multifactorial inheritance. The voltage-gated T-type calcium channel is regulated by Gamma-aminobutyric acid receptor subunit gamma-2 (GABRG2), GABRG3, and CACNA1A2 genes. […] The commonly held belief is that the genetic factor is the primary cause of childhood absence epilepsy. […] Furthermore, patients with childhood absence epilepsy have also been reported to exhibit certain copy number variations (CNVs), such as 15q11.2, 15q13.3, and 16p13.11 microdeletions. […] Almost 25% of children suffering from absence seizure has a relative that suffers from seizures. […] Some specific anticonvulsant drugs such as phenytoin, carbamazepine, and vigabatrin have been identified to raise the chances of experiencing absence seizures.
  • #7 Absence Seizure – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK499867/
    A genetic component exists for all generalized epilepsies and, specifically, for absence epilepsy. The inheritance pattern is not strictly autosomal recessive or dominant and is considered to be multifactorial and polygenic. In 1951, Lennox reported that 66% of monozygotic twins showed concordance for the EEG pattern of 3-Hertz spike and wave discharges. These can be voltage-gated (CACNA1H, CACNG3, CLCN2) or ligand-gated (CHRNA4, GABRA1, GABRB3, GABRG2, GRM4). CAE is linked to many genetic variations, including at the following locations: […] Also, some copy number variants (CNVs), for example, 15q11.2, 15q13.3, and 16p13.11 microdeletion, have been described in patients with CAE. However, the mode of inheritance and the majority of genes implicated in CAE are still unknown.
  • #8 Absence Seizure | Treatment & Management | Point of Care
    https://www.statpearls.com/point-of-care/28842
    A genetic component exists for all generalized epilepsies and, specifically, for absence epilepsy. The inheritance pattern is not strictly autosomal recessive or dominant and is considered to be multifactorial and polygenic. In 1951, Lennox reported that 66% of monozygotic twins showed concordance for the EEG pattern of 3-Hertz spike and wave discharges. These can be voltage-gated (CACNA1H, CACNG3, CLCN2) or ligand-gated (CHRNA4, GABRA1, GABRB3, GABRG2, GRM4). […] Also, some copy number variants (CNVs), for example, 15q11.2, 15q13.3, and 16p13.11 microdeletion, have been described in patients with CAE. However, the mode of inheritance and the majority of genes implicated in CAE are still unknown. […] As explained by the genetics of absence epilepsy, genes coding for T-type calcium channels and GABA receptors have been associated with the etiopathogenesis of this type of epilepsy. Medications that suppress T-type calcium channels, such as ethosuximide and valproate, are effective anti-absence drugs. Conversely, medications that increase GABA-B activity (eg, vigabatrin) exacerbate the frequency of absence seizures. In contrast, GABA-A agonists (eg, benzodiazepines) that preferentially enhance GABA-ergic activity in neurons from the thalamic nucleus reticularis can suppress absence seizures.
  • #9 Absence Seizures: Overview, Etiology, Epidemiology
    https://emedicine.medscape.com/article/1183858-overview
    The idiopathic generalized epilepsies are best viewed as a spectrum of clinical syndromes with varied genetic causes that affect the function of ion channels. […] Genetic studies have shown that these syndromes are channelopathies, but different gene mutations have been found in the same syndromes. Juvenile myoclonic epilepsy has been linked to chromosome 6, with linkage to chromosome 6p12 in Mexican families. […] Mutations in the EFHC1 gene have been found in Mexican and Italian families with juvenile myoclonic epilepsy, but not in a group of Dutch families. […] Childhood absence epilepsy with generalized tonic-clonic seizure has been linked to chromosome 8q24 in a 5-generation family from Bombay, India. […] Childhood absence epilepsy with febrile seizures has been linked to the GABA(A) receptor 2 subunit (GABRG2) on chromosome 5q3.1-33.1.
  • #10 Absence Seizure – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK499867/
    A genetic component exists for all generalized epilepsies and, specifically, for absence epilepsy. The inheritance pattern is not strictly autosomal recessive or dominant and is considered to be multifactorial and polygenic. In 1951, Lennox reported that 66% of monozygotic twins showed concordance for the EEG pattern of 3-Hertz spike and wave discharges. These can be voltage-gated (CACNA1H, CACNG3, CLCN2) or ligand-gated (CHRNA4, GABRA1, GABRB3, GABRG2, GRM4). CAE is linked to many genetic variations, including at the following locations: […] Also, some copy number variants (CNVs), for example, 15q11.2, 15q13.3, and 16p13.11 microdeletion, have been described in patients with CAE. However, the mode of inheritance and the majority of genes implicated in CAE are still unknown.
  • #11 Absence Seizure – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK499867/
    A genetic component exists for all generalized epilepsies and, specifically, for absence epilepsy. The inheritance pattern is not strictly autosomal recessive or dominant and is considered to be multifactorial and polygenic. In 1951, Lennox reported that 66% of monozygotic twins showed concordance for the EEG pattern of 3-Hertz spike and wave discharges. These can be voltage-gated (CACNA1H, CACNG3, CLCN2) or ligand-gated (CHRNA4, GABRA1, GABRB3, GABRG2, GRM4). CAE is linked to many genetic variations, including at the following locations: […] Also, some copy number variants (CNVs), for example, 15q11.2, 15q13.3, and 16p13.11 microdeletion, have been described in patients with CAE. However, the mode of inheritance and the majority of genes implicated in CAE are still unknown.
  • #12 Absence Seizure | Treatment & Management | Point of Care
    https://www.statpearls.com/point-of-care/28842
    A genetic component exists for all generalized epilepsies and, specifically, for absence epilepsy. The inheritance pattern is not strictly autosomal recessive or dominant and is considered to be multifactorial and polygenic. In 1951, Lennox reported that 66% of monozygotic twins showed concordance for the EEG pattern of 3-Hertz spike and wave discharges. These can be voltage-gated (CACNA1H, CACNG3, CLCN2) or ligand-gated (CHRNA4, GABRA1, GABRB3, GABRG2, GRM4). […] Also, some copy number variants (CNVs), for example, 15q11.2, 15q13.3, and 16p13.11 microdeletion, have been described in patients with CAE. However, the mode of inheritance and the majority of genes implicated in CAE are still unknown. […] As explained by the genetics of absence epilepsy, genes coding for T-type calcium channels and GABA receptors have been associated with the etiopathogenesis of this type of epilepsy. Medications that suppress T-type calcium channels, such as ethosuximide and valproate, are effective anti-absence drugs. Conversely, medications that increase GABA-B activity (eg, vigabatrin) exacerbate the frequency of absence seizures. In contrast, GABA-A agonists (eg, benzodiazepines) that preferentially enhance GABA-ergic activity in neurons from the thalamic nucleus reticularis can suppress absence seizures.
  • #13 Absence Seizure – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK499867/
    A genetic component exists for all generalized epilepsies and, specifically, for absence epilepsy. The inheritance pattern is not strictly autosomal recessive or dominant and is considered to be multifactorial and polygenic. In 1951, Lennox reported that 66% of monozygotic twins showed concordance for the EEG pattern of 3-Hertz spike and wave discharges. These can be voltage-gated (CACNA1H, CACNG3, CLCN2) or ligand-gated (CHRNA4, GABRA1, GABRB3, GABRG2, GRM4). CAE is linked to many genetic variations, including at the following locations: […] Also, some copy number variants (CNVs), for example, 15q11.2, 15q13.3, and 16p13.11 microdeletion, have been described in patients with CAE. However, the mode of inheritance and the majority of genes implicated in CAE are still unknown.
  • #14 Absence seizure – Wikipedia
    https://en.wikipedia.org/wiki/Absence_seizure
    Absence seizures are characterized by a brief loss and return of consciousness, generally not followed by a period of lethargy (i.e. without a notable postictal state). […] An absence seizure is specifically caused by multifactorial inheritance. The voltage-gated T-type calcium channel is regulated by Gamma-aminobutyric acid receptor subunit gamma-2 (GABRG2), GABRG3, and CACNA1A2 genes. […] The commonly held belief is that the genetic factor is the primary cause of childhood absence epilepsy. […] Furthermore, patients with childhood absence epilepsy have also been reported to exhibit certain copy number variations (CNVs), such as 15q11.2, 15q13.3, and 16p13.11 microdeletions. […] Almost 25% of children suffering from absence seizure has a relative that suffers from seizures. […] Some specific anticonvulsant drugs such as phenytoin, carbamazepine, and vigabatrin have been identified to raise the chances of experiencing absence seizures.
  • #15 Absence Seizure – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK499867/
    A genetic component exists for all generalized epilepsies and, specifically, for absence epilepsy. The inheritance pattern is not strictly autosomal recessive or dominant and is considered to be multifactorial and polygenic. In 1951, Lennox reported that 66% of monozygotic twins showed concordance for the EEG pattern of 3-Hertz spike and wave discharges. These can be voltage-gated (CACNA1H, CACNG3, CLCN2) or ligand-gated (CHRNA4, GABRA1, GABRB3, GABRG2, GRM4). CAE is linked to many genetic variations, including at the following locations: […] Also, some copy number variants (CNVs), for example, 15q11.2, 15q13.3, and 16p13.11 microdeletion, have been described in patients with CAE. However, the mode of inheritance and the majority of genes implicated in CAE are still unknown.
  • #16 Absence Seizures: Overview, Etiology, Epidemiology
    https://emedicine.medscape.com/article/1183858-overview
    The idiopathic generalized epilepsies are best viewed as a spectrum of clinical syndromes with varied genetic causes that affect the function of ion channels. […] Genetic studies have shown that these syndromes are channelopathies, but different gene mutations have been found in the same syndromes. Juvenile myoclonic epilepsy has been linked to chromosome 6, with linkage to chromosome 6p12 in Mexican families. […] Mutations in the EFHC1 gene have been found in Mexican and Italian families with juvenile myoclonic epilepsy, but not in a group of Dutch families. […] Childhood absence epilepsy with generalized tonic-clonic seizure has been linked to chromosome 8q24 in a 5-generation family from Bombay, India. […] Childhood absence epilepsy with febrile seizures has been linked to the GABA(A) receptor 2 subunit (GABRG2) on chromosome 5q3.1-33.1.
  • #17 Absence Seizures: Overview, Etiology, Epidemiology
    https://emedicine.medscape.com/article/1183858-overview
    A mutation in the GABA(A) receptor gene GABRB3 was found in Mexican families with childhood absence epilepsy. Mutations showed hyperglycosylation in vitro, with reduced GABA-evoked current density from whole cells. Expression of this gene in the developing brain may help explain an age-related onset and remission in childhood absence epilepsy.
  • #18 Absence Seizure: What It Is, Triggers, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/22194-absence-seizures
    Absence seizures are a type of generalized seizure. They’re either typical or atypical. A healthcare provider can help you manage these seizures with medications. […] A burst of electrical activity in your brain causes an absence seizure. The neurons (nerve cells) receive the wrong instructions and send too many electrical signals to different parts of your brain. […] Researchers believe that genetics may play a role. Studies are ongoing to learn more about the inheritance and specific genes involved in absence seizures. […] Unfortunately, there isn’t a way to prevent the onset of absence seizures since the most likely cause is genetics. Once they are diagnosed, the best way to prevent them is by following closely with your healthcare provider and taking medications as directed.
  • #19 Absence seizure: MedlinePlus Medical EncyclopediaLock
    https://medlineplus.gov/ency/article/000696.htm
    An absence seizure is the term for a type of seizure involving staring spells. This type of seizure is a brief (usually less than 15 seconds) change in awareness due to abnormal electrical activity in the brain. […] Seizures result from overactivity in the brain. Absence seizures occur most often in people under age 20, usually in children ages 4 to 12 years. […] In some cases, the seizures are triggered by flashing lights or when the person breathes faster and more deeply than usual (hyperventilates). […] They may also occur with other types of seizures, such as bilateral tonic-clonic seizures (grand mal seizures), twitches or jerks (myoclonus), or sudden loss of muscle strength (atonic seizures).
  • #20 Absence Seizure: What It Is, Triggers, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/22194-absence-seizures
    Absence seizures are a type of generalized seizure. They’re either typical or atypical. A healthcare provider can help you manage these seizures with medications. […] A burst of electrical activity in your brain causes an absence seizure. The neurons (nerve cells) receive the wrong instructions and send too many electrical signals to different parts of your brain. […] Researchers believe that genetics may play a role. Studies are ongoing to learn more about the inheritance and specific genes involved in absence seizures. […] Unfortunately, there isn’t a way to prevent the onset of absence seizures since the most likely cause is genetics. Once they are diagnosed, the best way to prevent them is by following closely with your healthcare provider and taking medications as directed.
  • #21 Absence seizure // Middlesex Health
    https://middlesexhealth.org/learning-center/diseases-and-conditions/absence-seizure
    Absence seizures usually have a genetic cause. […] In general, seizures occur as a result of a burst of electrical impulses from nerve cells in the brain, called neurons. […] In people who have seizures, the brain’s usual electrical activity is altered. During an absence seizure, these electrical signals repeat themselves over and over in a three-second pattern. […] People who have seizures also may have altered levels of the chemical messengers that help the nerve cells communicate with one another. These chemical messengers are called neurotransmitters.
  • #22 Absence seizure // Middlesex Health
    https://middlesexhealth.org/learning-center/diseases-and-conditions/absence-seizure
    Absence seizures usually have a genetic cause. […] In general, seizures occur as a result of a burst of electrical impulses from nerve cells in the brain, called neurons. […] In people who have seizures, the brain’s usual electrical activity is altered. During an absence seizure, these electrical signals repeat themselves over and over in a three-second pattern. […] People who have seizures also may have altered levels of the chemical messengers that help the nerve cells communicate with one another. These chemical messengers are called neurotransmitters.
  • #23 Absence seizure | UM Health-Sparrow
    https://www.uofmhealthsparrow.org/departments-conditions/conditions/absence-seizure
    Absence seizures usually have a genetic cause. […] In general, seizures occur as a result of a burst of electrical impulses from nerve cells in the brain, called neurons. […] In people who have seizures, the brain’s usual electrical activity is altered. […] During an absence seizure, these electrical signals repeat themselves over and over in a three-second pattern. […] People who have seizures also may have altered levels of the chemical messengers that help the nerve cells communicate with one another. These chemical messengers are called neurotransmitters.
  • #24 Absence seizure // Middlesex Health
    https://middlesexhealth.org/learning-center/diseases-and-conditions/absence-seizure
    Absence seizures usually have a genetic cause. […] In general, seizures occur as a result of a burst of electrical impulses from nerve cells in the brain, called neurons. […] In people who have seizures, the brain’s usual electrical activity is altered. During an absence seizure, these electrical signals repeat themselves over and over in a three-second pattern. […] People who have seizures also may have altered levels of the chemical messengers that help the nerve cells communicate with one another. These chemical messengers are called neurotransmitters.
  • #25 Absence (Petite Mal) Seizures: Symptoms, Risk, and Causes
    https://www.healthline.com/health/epilepsy/absence-petit-mal-seizures
    Absence seizures, sometimes called petit mal seizures, are brief, usually lasting less than 20 seconds. […] Researchers don’t know the specific cause of absence seizures, but there’s a presumed genetic component. The genetics aren’t well understood, but a 2016 research review found that some ion channel coding gene mutations may contribute in some families. […] Risk factors for developing absence seizures include: Age. Absence seizures most often occur in children ages 4 to 12. Based on a 2019 study, they peak around ages 6 to 7. […] During an absence seizure, your brain’s electrical signals may repeat themselves. You may also have altered levels of neurotransmitters, which are the chemical messengers that help brain cells communicate.
  • #26 What causes absence seizures in adulthood? Risk factors and FAQ
    https://www.medicalnewstoday.com/articles/what-causes-absence-seizures-in-adults
    Absence seizures usually occur due to atypical changes in brain activity. They tend to have a genetic cause. […] Experts are unsure about the exact causes of absence seizures in adulthood. They often have a genetic cause, suggesting they can become passed down through families. […] Researchers have identified certain genes, particularly those affecting calcium channels and gamma-aminobutyric acid (GABA), as playing a key role. […] Despite these findings, the exact genetic cause and mechanisms behind these seizures remain largely unknown. […] However, when adults receive a diagnosis, they often report having a family history of seizure disorders. This points to the possibility that these individuals have a genetic predisposition to seizures from a young age but might not have recognized their episodes as medical issues.
  • #27
    https://link.springer.com/article/10.1007/s10309-022-00469-w
    Generalized absence seizures are discussed here with respect to changing scientific concepts and newer findings, challenging the strict dichotomy of generalized vs. focal which may be counterproductive to the development of new ideas and treatments. […] Data from semiology, structural, and functional studies using quantitative electroencephalography (EEG), video-EEG monitoring, magnetoencephalography, magnetic resonance imaging, and positron emission tomography as well as neuropathology suggest a nosological spectrum from focal to generalized seizure-generating mechanisms. […] Functional findings indicate that the frontal lobe with its projections to other brain areas may play an important role in generalized absence seizures. […] Many motor and so-called automatic absence symptoms can be understood as correlated elements of a general organization plan of the cortex.
  • #28
    https://link.springer.com/article/10.1007/s10309-022-00469-w
    Generalized absence seizures are discussed here with respect to changing scientific concepts and newer findings, challenging the strict dichotomy of generalized vs. focal which may be counterproductive to the development of new ideas and treatments. […] Data from semiology, structural, and functional studies using quantitative electroencephalography (EEG), video-EEG monitoring, magnetoencephalography, magnetic resonance imaging, and positron emission tomography as well as neuropathology suggest a nosological spectrum from focal to generalized seizure-generating mechanisms. […] Functional findings indicate that the frontal lobe with its projections to other brain areas may play an important role in generalized absence seizures. […] Many motor and so-called automatic absence symptoms can be understood as correlated elements of a general organization plan of the cortex.
  • #29 Absence Epilepsy: Childhood and Juvenile Onset – Child Neurology Foundation
    https://www.childneurologyfoundation.org/disorder/absence-epilepsy/
    Absence seizures and generalized tonic-clonic seizures are caused by abnormal electrical activity in the brain. […] Genetics are thought to play a significant role. Some genes have been linked to this condition. It is unknown how this condition is inherited. […] Some things can trigger seizures. Triggers include: Rapid or heavy breathing (also called hyperventilation), Lack of sleep, Flashing lights, Not taking anti-seizure medication appropriately.
  • #30 Absence seizure: MedlinePlus Medical EncyclopediaLock
    https://medlineplus.gov/ency/article/000696.htm
    An absence seizure is the term for a type of seizure involving staring spells. This type of seizure is a brief (usually less than 15 seconds) change in awareness due to abnormal electrical activity in the brain. […] Seizures result from overactivity in the brain. Absence seizures occur most often in people under age 20, usually in children ages 4 to 12 years. […] In some cases, the seizures are triggered by flashing lights or when the person breathes faster and more deeply than usual (hyperventilates). […] They may also occur with other types of seizures, such as bilateral tonic-clonic seizures (grand mal seizures), twitches or jerks (myoclonus), or sudden loss of muscle strength (atonic seizures).
  • #31 Absence seizures in children
    https://pmc.ncbi.nlm.nih.gov/articles/PMC3867171/
    About 10% of seizures in children with epilepsy are typical absence seizures, with genetic factors considered to be the main cause. Where they are the only manifestation of epilepsy, they generally resolve spontaneously by the age of 12 years. […] The cause of childhood absence epilepsy is presumed to be genetic. Seizures can be triggered by hyperventilation in susceptible children. Some anticonvulsants, such as phenytoin, carbamazepine, and vigabatrin are associated with an increased risk of absence seizures. […] There is consensus that valproate is beneficial in childhood absence seizures, although we don’t know this for sure. We don’t know how effective valproate and ethosuximide are, compared with each other, at reducing seizure rate in children with absence seizures. […] We don’t know whether clonazepam or gabapentin reduces the frequency of absence seizures.
  • #32 Absence seizure (petit mal): Definition, symptoms, treatment, and more
    https://www.medicalnewstoday.com/articles/absence-seizure
    Absence seizures, previously known as petit mal seizures, are a type of epilepsy. They occur due to brief periods of abnormal electrical activity in the brain. […] Abnormal changes in brain activity cause seizures. Absence seizures are most common in children aged 414 years. However, it remains unclear what triggers these changes in brain activity. […] In some cases, hyperventilation can trigger an absence seizure. Hyperventilating involves rapidly breathing in and out. This can cause typical absence seizures. […] A doctor may prescribe medications to treat frequent absence seizures. Common medications for treating absence seizures include: ethosuximide, lamotrigine, valproic acid, divalproex sodium. […] Absence seizures typically become less frequent over time. Childhood absence epilepsy and other causes of absence seizures rarely continue into adulthood.
  • #33 Absence Epilepsy: Childhood and Juvenile Onset – Child Neurology Foundation
    https://www.childneurologyfoundation.org/disorder/absence-epilepsy/
    Absence seizures and generalized tonic-clonic seizures are caused by abnormal electrical activity in the brain. […] Genetics are thought to play a significant role. Some genes have been linked to this condition. It is unknown how this condition is inherited. […] Some things can trigger seizures. Triggers include: Rapid or heavy breathing (also called hyperventilation), Lack of sleep, Flashing lights, Not taking anti-seizure medication appropriately.
  • #34 Absence seizures | healthdirect
    https://www.healthdirect.gov.au/absence-seizures
    Absence seizures are a type of epilepsy seizure that affects both sides of the brain at the same time. […] Absence seizures used to be called 'petit mal’ seizures. You may have heard them be referred to as silent seizures. They are a form of epilepsy, a condition that disrupts the electrical activity in the brain, causing the seizure. […] Absence seizures can usually be prevented with medicines. […] There are several different medicines used to treat seizures. […] If you have been diagnosed with absence seizures, you can’t always prevent them from happening. You can, however, try to avoid things that can trigger your seizures. These are not specific to absence seizures and include: not taking medicines, flashing lights, being very tired, being stressed, not eating regular meals, drinking alcohol or taking illegal drugs. […] Some people are able to control their seizures with the help of special diets.
  • #35 Absence Epilepsy: Childhood and Juvenile Onset – Child Neurology Foundation
    https://www.childneurologyfoundation.org/disorder/absence-epilepsy/
    Absence seizures and generalized tonic-clonic seizures are caused by abnormal electrical activity in the brain. […] Genetics are thought to play a significant role. Some genes have been linked to this condition. It is unknown how this condition is inherited. […] Some things can trigger seizures. Triggers include: Rapid or heavy breathing (also called hyperventilation), Lack of sleep, Flashing lights, Not taking anti-seizure medication appropriately.
  • #36 Absence seizures | healthdirect
    https://www.healthdirect.gov.au/absence-seizures
    Absence seizures are a type of epilepsy seizure that affects both sides of the brain at the same time. […] Absence seizures used to be called 'petit mal’ seizures. You may have heard them be referred to as silent seizures. They are a form of epilepsy, a condition that disrupts the electrical activity in the brain, causing the seizure. […] Absence seizures can usually be prevented with medicines. […] There are several different medicines used to treat seizures. […] If you have been diagnosed with absence seizures, you can’t always prevent them from happening. You can, however, try to avoid things that can trigger your seizures. These are not specific to absence seizures and include: not taking medicines, flashing lights, being very tired, being stressed, not eating regular meals, drinking alcohol or taking illegal drugs. […] Some people are able to control their seizures with the help of special diets.
  • #37 Absence Epilepsy: Childhood and Juvenile Onset – Child Neurology Foundation
    https://www.childneurologyfoundation.org/disorder/absence-epilepsy/
    Absence seizures and generalized tonic-clonic seizures are caused by abnormal electrical activity in the brain. […] Genetics are thought to play a significant role. Some genes have been linked to this condition. It is unknown how this condition is inherited. […] Some things can trigger seizures. Triggers include: Rapid or heavy breathing (also called hyperventilation), Lack of sleep, Flashing lights, Not taking anti-seizure medication appropriately.
  • #38 Absence status epilepticus | MedLink Neurology
    https://www.medlink.com/articles/absence-status-epilepticus
    Absence status epilepticus is a prolonged, generalized absence seizure that usually lasts for hours and can even last for days. […] Absence status epilepticus may be typical, occurring in patients with idiopathic generalized epilepsy, or atypical, occurring in patients with neurocognitive impairment as with developmental and epileptic encephalopathies. […] Absence status epilepticus may also appear de novo, mainly in adults without a previous history of epilepsy. […] Frequently, absence status epilepticus occurs in the setting of medication nonadherence or because of ill-advised antiepileptic drug treatment, such as with tiagabine or carbamazepine in patients with idiopathic generalized epilepsy. […] Medication nonadherence is a common trigger for the occurrence of absence status epilepticus.
  • #39 Absence Seizure: Symptoms, Causes, Diagnosis, Treatment, and Prevention
    https://www.everydayhealth.com/neurological-disorders/absence-seizure/
    Absence seizures are caused by sudden bursts of electrical activity from nerve cells in the brain, called neurons, which send electrical and chemical signals across the synapses that connect them. In people who have absence seizures, the electrical signals repeat themselves over and over in a three-second pattern instead of behaving in the usual way. […] Experts believe that people who have seizures may have altered levels of neurotransmitters, the chemical messengers that help the nerve cells communicate with one another. […] Risk factors for absence seizures include: Genetics These seizures often run in families. Close to 1 in 4 children with absence seizures have a close relative who has seizures. Age Absence seizures usually start in childhood, typically between ages 4 and 14. Sex This type of seizure is more common in girls.
  • #40 Absence (Petite Mal) Seizures: Symptoms, Risk, and Causes
    https://www.healthline.com/health/epilepsy/absence-petit-mal-seizures
    Absence seizures, sometimes called petit mal seizures, are brief, usually lasting less than 20 seconds. […] Researchers don’t know the specific cause of absence seizures, but there’s a presumed genetic component. The genetics aren’t well understood, but a 2016 research review found that some ion channel coding gene mutations may contribute in some families. […] Risk factors for developing absence seizures include: Age. Absence seizures most often occur in children ages 4 to 12. Based on a 2019 study, they peak around ages 6 to 7. […] During an absence seizure, your brain’s electrical signals may repeat themselves. You may also have altered levels of neurotransmitters, which are the chemical messengers that help brain cells communicate.
  • #41 Absence Seizures (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/childhood-absence-epilepsy.html
    Absence seizures are thought to be genetic, though a child might not always have a family member who has seizures or epilepsy. Sometimes seizures are from gene mutations. […] Anyone can get absence seizures, but they are more likely in: children ages 4-14 years, people who have a family member with absence seizures, girls.
  • #42 Absence Seizures (for Parents) | Nemours KidsHealth
    https://kidshealth.org/en/parents/childhood-absence-epilepsy.html
    Absence seizures are thought to be genetic, though a child might not always have a family member who has seizures or epilepsy. Sometimes seizures are from gene mutations. […] Anyone can get absence seizures, but they are more likely in: children ages 4-14 years, people who have a family member with absence seizures, girls.
  • #43 Absence Seizure: Symptoms, Causes, Diagnosis, Treatment, and Prevention
    https://www.everydayhealth.com/neurological-disorders/absence-seizure/
    Absence seizures are caused by sudden bursts of electrical activity from nerve cells in the brain, called neurons, which send electrical and chemical signals across the synapses that connect them. In people who have absence seizures, the electrical signals repeat themselves over and over in a three-second pattern instead of behaving in the usual way. […] Experts believe that people who have seizures may have altered levels of neurotransmitters, the chemical messengers that help the nerve cells communicate with one another. […] Risk factors for absence seizures include: Genetics These seizures often run in families. Close to 1 in 4 children with absence seizures have a close relative who has seizures. Age Absence seizures usually start in childhood, typically between ages 4 and 14. Sex This type of seizure is more common in girls.
  • #44 Absence Seizure: Symptoms, Causes, Diagnosis, Treatment, and Prevention
    https://www.everydayhealth.com/neurological-disorders/absence-seizure/
    Absence seizures are caused by sudden bursts of electrical activity from nerve cells in the brain, called neurons, which send electrical and chemical signals across the synapses that connect them. In people who have absence seizures, the electrical signals repeat themselves over and over in a three-second pattern instead of behaving in the usual way. […] Experts believe that people who have seizures may have altered levels of neurotransmitters, the chemical messengers that help the nerve cells communicate with one another. […] Risk factors for absence seizures include: Genetics These seizures often run in families. Close to 1 in 4 children with absence seizures have a close relative who has seizures. Age Absence seizures usually start in childhood, typically between ages 4 and 14. Sex This type of seizure is more common in girls.
  • #45 Absence seizures in children
    https://pmc.ncbi.nlm.nih.gov/articles/PMC3867171/
    About 10% of seizures in children with epilepsy are typical absence seizures, with genetic factors considered to be the main cause. Where they are the only manifestation of epilepsy, they generally resolve spontaneously by the age of 12 years. […] The cause of childhood absence epilepsy is presumed to be genetic. Seizures can be triggered by hyperventilation in susceptible children. Some anticonvulsants, such as phenytoin, carbamazepine, and vigabatrin are associated with an increased risk of absence seizures. […] There is consensus that valproate is beneficial in childhood absence seizures, although we don’t know this for sure. We don’t know how effective valproate and ethosuximide are, compared with each other, at reducing seizure rate in children with absence seizures. […] We don’t know whether clonazepam or gabapentin reduces the frequency of absence seizures.
  • #46 Absence Seizures in Children | AAFP
    https://www.aafp.org/pubs/afp/issues/2015/0115/p114.html
    About 10% of seizures in children with epilepsy are typical absence seizures, with genetic factors considered to be the main cause. […] The cause of childhood absence epilepsy is presumed to be genetic. Seizures can be triggered by hyperventilation in susceptible children. […] Some anticonvulsants, such as phenytoin, carbamazepine, and vigabatrin, are associated with an increased risk of absence seizures.
  • #47 Absence seizure – Wikipedia
    https://en.wikipedia.org/wiki/Absence_seizure
    Absence seizures are characterized by a brief loss and return of consciousness, generally not followed by a period of lethargy (i.e. without a notable postictal state). […] An absence seizure is specifically caused by multifactorial inheritance. The voltage-gated T-type calcium channel is regulated by Gamma-aminobutyric acid receptor subunit gamma-2 (GABRG2), GABRG3, and CACNA1A2 genes. […] The commonly held belief is that the genetic factor is the primary cause of childhood absence epilepsy. […] Furthermore, patients with childhood absence epilepsy have also been reported to exhibit certain copy number variations (CNVs), such as 15q11.2, 15q13.3, and 16p13.11 microdeletions. […] Almost 25% of children suffering from absence seizure has a relative that suffers from seizures. […] Some specific anticonvulsant drugs such as phenytoin, carbamazepine, and vigabatrin have been identified to raise the chances of experiencing absence seizures.
  • #48 Absence status epilepticus | MedLink Neurology
    https://www.medlink.com/articles/absence-status-epilepticus
    Frequently, absence status epilepticus occurs because of ill-advised antiepileptic drug treatment such as tiagabine, carbamazepine, gabapentin, oxcarbazepine, pregabalin, or vigabatrin. […] Furthermore, to comply with seizure and syndrome classification, absence status epilepticus may be situation-related and caused by the introduction or withdrawal of certain drugs, intoxication, or electrolyte or metabolic disturbances. […] Symptomatic absence status may also be caused by severe brain anoxia or other brain damage. […] The pathophysiology of absence status epilepticus (typical or atypical) is unknown. […] It is likely that the generating mechanisms of absence seizures and absence status epilepticus are the same because their clinico-EEG features show marked syndrome-related similarities.
  • #49 Absence seizures in children
    https://pmc.ncbi.nlm.nih.gov/articles/PMC3867171/
    About 10% of seizures in children with epilepsy are typical absence seizures, with genetic factors considered to be the main cause. Where they are the only manifestation of epilepsy, they generally resolve spontaneously by the age of 12 years. […] The cause of childhood absence epilepsy is presumed to be genetic. Seizures can be triggered by hyperventilation in susceptible children. Some anticonvulsants, such as phenytoin, carbamazepine, and vigabatrin are associated with an increased risk of absence seizures. […] There is consensus that valproate is beneficial in childhood absence seizures, although we don’t know this for sure. We don’t know how effective valproate and ethosuximide are, compared with each other, at reducing seizure rate in children with absence seizures. […] We don’t know whether clonazepam or gabapentin reduces the frequency of absence seizures.
  • #50 Absence Seizures: Causes, Risk Factors, Types, Symptoms, Prevention, Diagnosis & Evaluation, Treatment & Management, and When to Consult a Physician
    https://www.doctorshubnepal.com/diseases-conditions/absence-seizures
    Absence seizures, also known as petit mal seizures, are a unique form of epilepsy that primarily affects children but can continue into adulthood. […] The exact cause of absence seizures is not always clear, but they are believed to be related to abnormal electrical activity in the brain. Some potential contributing factors and risk factors include: […] Genetics: A family history of epilepsy can increase the risk of developing absence seizures. […] Brain Abnormalities: Structural or developmental issues in the brain can predispose individuals to seizures. […] Metabolic Imbalances: Some metabolic disorders can lead to the development of absence seizures. […] Childhood Onset: Absence seizures are most common in childhood and tend to peak during the school-age years. […] Risk factors for absence seizures include a family history of seizures or epilepsy, a history of febrile seizures, and certain genetic conditions.
  • #51 What causes absence seizures in adulthood? Risk factors and FAQ
    https://www.medicalnewstoday.com/articles/what-causes-absence-seizures-in-adults
    Autoimmune diseases could trigger absence seizures by causing the body’s immune system to attack healthy brain tissue mistakenly. […] A 2013 paper linked the autoimmune conditions Crohn’s disease and Hashimoto’s encephalopathy with absence seizures. […] There is an association between mental health conditions, such as depression and anxiety, and absence seizures. […] Specific genes and brain pathways have a role in both absence seizures and psychiatric disorders.
  • #52 Childhood Absence Epilepsy | Symptoms, Diagnosis & Treatment
    https://www.cincinnatichildrens.org/health/c/childhood-absence-epilepsy
    Children with CAE are usually otherwise healthy, with no history of neurological, intelligence or developmental problems. Some children with CAE report a family history of similar seizures. But for most children, there is no genetic link or known cause for the condition. […] When CAE occurs before the age of 4, the cause may be related to a rare genetic condition called glucose transporter Type 1 (Glut1) deficiency. This condition keeps sugar from crossing the childs blood into the brain. Anti-seizure medications may not help children with this condition. Often being on a ketogenic diet can help.
  • #53 Absence Seizures: Symptoms, Causes, and Treatments
    https://resources.healthgrades.com/right-care/epilepsy/absence-seizure
    Absence seizures are due to alterations in electrical activity in the brain. […] Often, doctors cannot find the specific reason for the absence seizure. […] However, absence seizures may have a genetic link. Absence seizures are hallmarks of at least the following genetic epilepsies: childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, Lennox-Gastaut syndrome. […] The genetic disorder glucose transporter type 1 deficiency syndrome can also cause absence seizures. This is because the brain is not getting enough glucose, which it needs for energy.
  • #54 What causes absence seizures in adulthood? Risk factors and FAQ
    https://www.medicalnewstoday.com/articles/what-causes-absence-seizures-in-adults
    Autoimmune diseases could trigger absence seizures by causing the body’s immune system to attack healthy brain tissue mistakenly. […] A 2013 paper linked the autoimmune conditions Crohn’s disease and Hashimoto’s encephalopathy with absence seizures. […] There is an association between mental health conditions, such as depression and anxiety, and absence seizures. […] Specific genes and brain pathways have a role in both absence seizures and psychiatric disorders.
  • #55 Absence Seizures: Symptoms, Causes, Diagnosis, Treatment
    https://www.verywellhealth.com/absence-seizures-1204519
    Absence seizures are caused by abnormal electrical activity throughout the brain. […] Most people who experience absence seizures don’t experience other types of seizures. However, some people who have absence seizures may have a family history of epilepsy. […] Someone with absence seizures may have other medical conditions characterized by severe developmental delay. They may also have a medication-resistant form of epilepsy such as Rett syndrome, Lennox-Gastaut syndrome, or Dravet syndrome that involves convulsive seizures and absence seizures.
  • #56 Absence status epilepticus | MedLink Neurology
    https://www.medlink.com/articles/absence-status-epilepticus
    The main distinction of atypical from typical absence status is that it occurs mainly in children with developmental or epileptic encephalopathies who also have a plethora of other types of frequent seizures such as atypical absences, tonic and atonic seizures, myoclonic jerks, and GTCS. […] Typical absence status epilepticus is more common among patients with idiopathic generalized epilepsies with absence seizure types. […] Atypical absence status epilepticus is more common among patients with Lennox-Gastaut syndrome and other developmental or epileptic encephalopathies. […] Risk factors include inappropriate antiepileptic drug treatment. […] Case reports have described de novo absence status occurring in a variety of patients without pre-existing epilepsy, including among women during pregnancy and patients recovering from infection with COVID-19.
  • #57 Absence Seizure: What It Is, Triggers, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/22194-absence-seizures
    Absence seizures are a type of generalized seizure. They’re either typical or atypical. A healthcare provider can help you manage these seizures with medications. […] A burst of electrical activity in your brain causes an absence seizure. The neurons (nerve cells) receive the wrong instructions and send too many electrical signals to different parts of your brain. […] Researchers believe that genetics may play a role. Studies are ongoing to learn more about the inheritance and specific genes involved in absence seizures. […] Unfortunately, there isn’t a way to prevent the onset of absence seizures since the most likely cause is genetics. Once they are diagnosed, the best way to prevent them is by following closely with your healthcare provider and taking medications as directed.
  • #58 Absence and Atypical Absence Seizures – LGS Foundation
    https://www.lgsfoundation.org/atypical-absence-seizures/
    Absence Seizures cause lapses in awareness and sometimes involve staring. These used to be called petit mal seizures. Atypical Absence Seizures are similar to absence seizures and also may involve muscle movements such as: […] Symptoms of absence seizures can be difficult to pick up in a person with other cognitive or behavioral problems. It may be hard to tell what is due to a seizure or other behaviors. […] Absence and atypical absence seizures are very difficult to identify without a video EEG. Treatment differs for these two seizure types and an EEG would be needed in order to determine the best treatment. […] An EEG is the only way to determine the exact seizure type.
  • #59 Absence status epilepticus | MedLink Neurology
    https://www.medlink.com/articles/absence-status-epilepticus
    The main distinction of atypical from typical absence status is that it occurs mainly in children with developmental or epileptic encephalopathies who also have a plethora of other types of frequent seizures such as atypical absences, tonic and atonic seizures, myoclonic jerks, and GTCS. […] Typical absence status epilepticus is more common among patients with idiopathic generalized epilepsies with absence seizure types. […] Atypical absence status epilepticus is more common among patients with Lennox-Gastaut syndrome and other developmental or epileptic encephalopathies. […] Risk factors include inappropriate antiepileptic drug treatment. […] Case reports have described de novo absence status occurring in a variety of patients without pre-existing epilepsy, including among women during pregnancy and patients recovering from infection with COVID-19.
  • #60 Absence (Petite Mal) Seizures: Symptoms, Risk, and Causes
    https://www.healthline.com/health/epilepsy/absence-petit-mal-seizures
    Absence seizures, sometimes called petit mal seizures, are brief, usually lasting less than 20 seconds. […] Researchers don’t know the specific cause of absence seizures, but there’s a presumed genetic component. The genetics aren’t well understood, but a 2016 research review found that some ion channel coding gene mutations may contribute in some families. […] Risk factors for developing absence seizures include: Age. Absence seizures most often occur in children ages 4 to 12. Based on a 2019 study, they peak around ages 6 to 7. […] During an absence seizure, your brain’s electrical signals may repeat themselves. You may also have altered levels of neurotransmitters, which are the chemical messengers that help brain cells communicate.
  • #61 Absence Seizures: Overview, Etiology, Epidemiology
    https://emedicine.medscape.com/article/1183858-overview
    The etiology of idiopathic epilepsies with age-related onset is genetic. About 15-40% of patients with these epilepsies have a family history of epilepsy; overall concordance in monozygotic twins is 74%, with a 100% concordance during the peak age of phenotypic expression. Family members may have other forms of idiopathic or genetic epilepsy (eg, febrile convulsions, generalized tonic-clonic seizures). […] The idiopathic generalized epilepsies are a group of primary generalized epilepsies with absence, myoclonic, and tonic-clonic seizures. Based on age of onset and seizure types, some can be grouped into well-recognized syndromes, such as childhood absence epilepsy, juvenile absence epilepsy, and juvenile myoclonic epilepsy. […] However, patients with other syndromes, such as generalized epilepsy with febrile seizures plus (GEFS+), as well as patients who have childhood absence epilepsy that leads into juvenile myoclonic epilepsy, illustrate that these syndromes represent a genetically determined lower threshold to have seizures.
  • #62 Childhood absence epilepsy – UpToDate
    https://www.uptodate.com/contents/childhood-absence-epilepsy
    Childhood absence epilepsy (CAE) is a common generalized epilepsy syndrome with a presumed polygenic cause, characterized by typical absence seizures appearing in otherwise healthy school-aged children. […] CAE is classified as an epilepsy syndrome with presumed polygenic cause according to the International League Against Epilepsy (ILAE). […] The ILAE described a broad group of genetic generalized epilepsies (GGEs) that are characterized by generalized seizure types and generalized spike-wave with a presumed genetic etiology.
  • #63 Absence Seizures: Overview, Etiology, Epidemiology
    https://emedicine.medscape.com/article/1183858-overview
    The etiology of idiopathic epilepsies with age-related onset is genetic. About 15-40% of patients with these epilepsies have a family history of epilepsy; overall concordance in monozygotic twins is 74%, with a 100% concordance during the peak age of phenotypic expression. Family members may have other forms of idiopathic or genetic epilepsy (eg, febrile convulsions, generalized tonic-clonic seizures). […] The idiopathic generalized epilepsies are a group of primary generalized epilepsies with absence, myoclonic, and tonic-clonic seizures. Based on age of onset and seizure types, some can be grouped into well-recognized syndromes, such as childhood absence epilepsy, juvenile absence epilepsy, and juvenile myoclonic epilepsy. […] However, patients with other syndromes, such as generalized epilepsy with febrile seizures plus (GEFS+), as well as patients who have childhood absence epilepsy that leads into juvenile myoclonic epilepsy, illustrate that these syndromes represent a genetically determined lower threshold to have seizures.
  • #64 Absence Seizures: Overview, Etiology, Epidemiology
    https://emedicine.medscape.com/article/1183858-overview
    The etiology of idiopathic epilepsies with age-related onset is genetic. About 15-40% of patients with these epilepsies have a family history of epilepsy; overall concordance in monozygotic twins is 74%, with a 100% concordance during the peak age of phenotypic expression. Family members may have other forms of idiopathic or genetic epilepsy (eg, febrile convulsions, generalized tonic-clonic seizures). […] The idiopathic generalized epilepsies are a group of primary generalized epilepsies with absence, myoclonic, and tonic-clonic seizures. Based on age of onset and seizure types, some can be grouped into well-recognized syndromes, such as childhood absence epilepsy, juvenile absence epilepsy, and juvenile myoclonic epilepsy. […] However, patients with other syndromes, such as generalized epilepsy with febrile seizures plus (GEFS+), as well as patients who have childhood absence epilepsy that leads into juvenile myoclonic epilepsy, illustrate that these syndromes represent a genetically determined lower threshold to have seizures.
  • #65 Absence status epilepticus | MedLink Neurology
    https://www.medlink.com/articles/absence-status-epilepticus
    Absence status epilepticus is a prolonged, generalized absence seizure that usually lasts for hours and can even last for days. […] Absence status epilepticus may be typical, occurring in patients with idiopathic generalized epilepsy, or atypical, occurring in patients with neurocognitive impairment as with developmental and epileptic encephalopathies. […] Absence status epilepticus may also appear de novo, mainly in adults without a previous history of epilepsy. […] Frequently, absence status epilepticus occurs in the setting of medication nonadherence or because of ill-advised antiepileptic drug treatment, such as with tiagabine or carbamazepine in patients with idiopathic generalized epilepsy. […] Medication nonadherence is a common trigger for the occurrence of absence status epilepticus.
  • #66 Absence and Atypical Absence Seizures – LGS Foundation
    https://www.lgsfoundation.org/atypical-absence-seizures/
    Absence Seizures cause lapses in awareness and sometimes involve staring. These used to be called petit mal seizures. Atypical Absence Seizures are similar to absence seizures and also may involve muscle movements such as: […] Symptoms of absence seizures can be difficult to pick up in a person with other cognitive or behavioral problems. It may be hard to tell what is due to a seizure or other behaviors. […] Absence and atypical absence seizures are very difficult to identify without a video EEG. Treatment differs for these two seizure types and an EEG would be needed in order to determine the best treatment. […] An EEG is the only way to determine the exact seizure type.
  • #67 Absence status epilepticus | MedLink Neurology
    https://www.medlink.com/articles/absence-status-epilepticus
    The main distinction of atypical from typical absence status is that it occurs mainly in children with developmental or epileptic encephalopathies who also have a plethora of other types of frequent seizures such as atypical absences, tonic and atonic seizures, myoclonic jerks, and GTCS. […] Typical absence status epilepticus is more common among patients with idiopathic generalized epilepsies with absence seizure types. […] Atypical absence status epilepticus is more common among patients with Lennox-Gastaut syndrome and other developmental or epileptic encephalopathies. […] Risk factors include inappropriate antiepileptic drug treatment. […] Case reports have described de novo absence status occurring in a variety of patients without pre-existing epilepsy, including among women during pregnancy and patients recovering from infection with COVID-19.
  • #68 Absence Seizures: Symptoms, Causes, Diagnosis, Treatment
    https://www.verywellhealth.com/absence-seizures-1204519
    Absence seizures are caused by abnormal electrical activity throughout the brain. […] Most people who experience absence seizures don’t experience other types of seizures. However, some people who have absence seizures may have a family history of epilepsy. […] Someone with absence seizures may have other medical conditions characterized by severe developmental delay. They may also have a medication-resistant form of epilepsy such as Rett syndrome, Lennox-Gastaut syndrome, or Dravet syndrome that involves convulsive seizures and absence seizures.
  • #69 Absence status epilepticus | MedLink Neurology
    https://www.medlink.com/articles/absence-status-epilepticus
    Absence status epilepticus is a prolonged, generalized absence seizure that usually lasts for hours and can even last for days. […] Absence status epilepticus may be typical, occurring in patients with idiopathic generalized epilepsy, or atypical, occurring in patients with neurocognitive impairment as with developmental and epileptic encephalopathies. […] Absence status epilepticus may also appear de novo, mainly in adults without a previous history of epilepsy. […] Frequently, absence status epilepticus occurs in the setting of medication nonadherence or because of ill-advised antiepileptic drug treatment, such as with tiagabine or carbamazepine in patients with idiopathic generalized epilepsy. […] Medication nonadherence is a common trigger for the occurrence of absence status epilepticus.
  • #70 Absence status epilepticus | MedLink Neurology
    https://www.medlink.com/articles/absence-status-epilepticus
    Absence status epilepticus is a prolonged, generalized absence seizure that usually lasts for hours and can even last for days. […] Absence status epilepticus may be typical, occurring in patients with idiopathic generalized epilepsy, or atypical, occurring in patients with neurocognitive impairment as with developmental and epileptic encephalopathies. […] Absence status epilepticus may also appear de novo, mainly in adults without a previous history of epilepsy. […] Frequently, absence status epilepticus occurs in the setting of medication nonadherence or because of ill-advised antiepileptic drug treatment, such as with tiagabine or carbamazepine in patients with idiopathic generalized epilepsy. […] Medication nonadherence is a common trigger for the occurrence of absence status epilepticus.
  • #71 Absence status epilepticus | MedLink Neurology
    https://www.medlink.com/articles/absence-status-epilepticus
    Frequently, absence status epilepticus occurs because of ill-advised antiepileptic drug treatment such as tiagabine, carbamazepine, gabapentin, oxcarbazepine, pregabalin, or vigabatrin. […] Furthermore, to comply with seizure and syndrome classification, absence status epilepticus may be situation-related and caused by the introduction or withdrawal of certain drugs, intoxication, or electrolyte or metabolic disturbances. […] Symptomatic absence status may also be caused by severe brain anoxia or other brain damage. […] The pathophysiology of absence status epilepticus (typical or atypical) is unknown. […] It is likely that the generating mechanisms of absence seizures and absence status epilepticus are the same because their clinico-EEG features show marked syndrome-related similarities.
  • #72 Absence status epilepticus | MedLink Neurology
    https://www.medlink.com/articles/absence-status-epilepticus
    The main distinction of atypical from typical absence status is that it occurs mainly in children with developmental or epileptic encephalopathies who also have a plethora of other types of frequent seizures such as atypical absences, tonic and atonic seizures, myoclonic jerks, and GTCS. […] Typical absence status epilepticus is more common among patients with idiopathic generalized epilepsies with absence seizure types. […] Atypical absence status epilepticus is more common among patients with Lennox-Gastaut syndrome and other developmental or epileptic encephalopathies. […] Risk factors include inappropriate antiepileptic drug treatment. […] Case reports have described de novo absence status occurring in a variety of patients without pre-existing epilepsy, including among women during pregnancy and patients recovering from infection with COVID-19.
  • #73 Absence Seizure – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK499867/
    A genetic component exists for all generalized epilepsies and, specifically, for absence epilepsy. The inheritance pattern is not strictly autosomal recessive or dominant and is considered to be multifactorial and polygenic. In 1951, Lennox reported that 66% of monozygotic twins showed concordance for the EEG pattern of 3-Hertz spike and wave discharges. These can be voltage-gated (CACNA1H, CACNG3, CLCN2) or ligand-gated (CHRNA4, GABRA1, GABRB3, GABRG2, GRM4). CAE is linked to many genetic variations, including at the following locations: […] Also, some copy number variants (CNVs), for example, 15q11.2, 15q13.3, and 16p13.11 microdeletion, have been described in patients with CAE. However, the mode of inheritance and the majority of genes implicated in CAE are still unknown.
  • #74 What causes absence seizures in adulthood? Risk factors and FAQ
    https://www.medicalnewstoday.com/articles/what-causes-absence-seizures-in-adults
    Absence seizures usually occur due to atypical changes in brain activity. They tend to have a genetic cause. […] Experts are unsure about the exact causes of absence seizures in adulthood. They often have a genetic cause, suggesting they can become passed down through families. […] Researchers have identified certain genes, particularly those affecting calcium channels and gamma-aminobutyric acid (GABA), as playing a key role. […] Despite these findings, the exact genetic cause and mechanisms behind these seizures remain largely unknown. […] However, when adults receive a diagnosis, they often report having a family history of seizure disorders. This points to the possibility that these individuals have a genetic predisposition to seizures from a young age but might not have recognized their episodes as medical issues.
  • #75 Absence seizure // Middlesex Health
    https://middlesexhealth.org/learning-center/diseases-and-conditions/absence-seizure
    Absence seizures usually have a genetic cause. […] In general, seizures occur as a result of a burst of electrical impulses from nerve cells in the brain, called neurons. […] In people who have seizures, the brain’s usual electrical activity is altered. During an absence seizure, these electrical signals repeat themselves over and over in a three-second pattern. […] People who have seizures also may have altered levels of the chemical messengers that help the nerve cells communicate with one another. These chemical messengers are called neurotransmitters.
  • #76
    https://link.springer.com/article/10.1007/s10309-022-00469-w
    Generalized absence seizures are discussed here with respect to changing scientific concepts and newer findings, challenging the strict dichotomy of generalized vs. focal which may be counterproductive to the development of new ideas and treatments. […] Data from semiology, structural, and functional studies using quantitative electroencephalography (EEG), video-EEG monitoring, magnetoencephalography, magnetic resonance imaging, and positron emission tomography as well as neuropathology suggest a nosological spectrum from focal to generalized seizure-generating mechanisms. […] Functional findings indicate that the frontal lobe with its projections to other brain areas may play an important role in generalized absence seizures. […] Many motor and so-called automatic absence symptoms can be understood as correlated elements of a general organization plan of the cortex.
  • #77 Absence Epilepsy: Childhood and Juvenile Onset – Child Neurology Foundation
    https://www.childneurologyfoundation.org/disorder/absence-epilepsy/
    Absence seizures and generalized tonic-clonic seizures are caused by abnormal electrical activity in the brain. […] Genetics are thought to play a significant role. Some genes have been linked to this condition. It is unknown how this condition is inherited. […] Some things can trigger seizures. Triggers include: Rapid or heavy breathing (also called hyperventilation), Lack of sleep, Flashing lights, Not taking anti-seizure medication appropriately.
  • #78 Absence seizure: MedlinePlus Medical EncyclopediaLock
    https://medlineplus.gov/ency/article/000696.htm
    An absence seizure is the term for a type of seizure involving staring spells. This type of seizure is a brief (usually less than 15 seconds) change in awareness due to abnormal electrical activity in the brain. […] Seizures result from overactivity in the brain. Absence seizures occur most often in people under age 20, usually in children ages 4 to 12 years. […] In some cases, the seizures are triggered by flashing lights or when the person breathes faster and more deeply than usual (hyperventilates). […] They may also occur with other types of seizures, such as bilateral tonic-clonic seizures (grand mal seizures), twitches or jerks (myoclonus), or sudden loss of muscle strength (atonic seizures).
  • #79 Absence seizures in children
    https://pmc.ncbi.nlm.nih.gov/articles/PMC3867171/
    About 10% of seizures in children with epilepsy are typical absence seizures, with genetic factors considered to be the main cause. Where they are the only manifestation of epilepsy, they generally resolve spontaneously by the age of 12 years. […] The cause of childhood absence epilepsy is presumed to be genetic. Seizures can be triggered by hyperventilation in susceptible children. Some anticonvulsants, such as phenytoin, carbamazepine, and vigabatrin are associated with an increased risk of absence seizures. […] There is consensus that valproate is beneficial in childhood absence seizures, although we don’t know this for sure. We don’t know how effective valproate and ethosuximide are, compared with each other, at reducing seizure rate in children with absence seizures. […] We don’t know whether clonazepam or gabapentin reduces the frequency of absence seizures.
  • #80 Absence Seizures in Children | AAFP
    https://www.aafp.org/pubs/afp/issues/2015/0115/p114.html
    About 10% of seizures in children with epilepsy are typical absence seizures, with genetic factors considered to be the main cause. […] The cause of childhood absence epilepsy is presumed to be genetic. Seizures can be triggered by hyperventilation in susceptible children. […] Some anticonvulsants, such as phenytoin, carbamazepine, and vigabatrin, are associated with an increased risk of absence seizures.
  • #81 Absence Seizures: Causes, Risk Factors, Types, Symptoms, Prevention, Diagnosis & Evaluation, Treatment & Management, and When to Consult a Physician
    https://www.doctorshubnepal.com/diseases-conditions/absence-seizures
    Absence seizures, also known as petit mal seizures, are a unique form of epilepsy that primarily affects children but can continue into adulthood. […] The exact cause of absence seizures is not always clear, but they are believed to be related to abnormal electrical activity in the brain. Some potential contributing factors and risk factors include: […] Genetics: A family history of epilepsy can increase the risk of developing absence seizures. […] Brain Abnormalities: Structural or developmental issues in the brain can predispose individuals to seizures. […] Metabolic Imbalances: Some metabolic disorders can lead to the development of absence seizures. […] Childhood Onset: Absence seizures are most common in childhood and tend to peak during the school-age years. […] Risk factors for absence seizures include a family history of seizures or epilepsy, a history of febrile seizures, and certain genetic conditions.
  • #82 What causes absence seizures in adulthood? Risk factors and FAQ
    https://www.medicalnewstoday.com/articles/what-causes-absence-seizures-in-adults
    Autoimmune diseases could trigger absence seizures by causing the body’s immune system to attack healthy brain tissue mistakenly. […] A 2013 paper linked the autoimmune conditions Crohn’s disease and Hashimoto’s encephalopathy with absence seizures. […] There is an association between mental health conditions, such as depression and anxiety, and absence seizures. […] Specific genes and brain pathways have a role in both absence seizures and psychiatric disorders.