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Absence seizure

MedGen UID:: 4989
•Concept ID:: C0014553
•: Disease or Syndrome

Synonym:	Absence epilepsy
SNOMED CT:	Generalized non-motor seizure (79631006); Generalized onset non-motor seizure (79631006); Absence seizure (79631006); Generalized-onset non-motor seizure (79631006); GAS - generalized absence seizure (79631006)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	CACNA1H, GABRB3

Monarch Initiative:	MONDO:0850093

Definition

Absence seizures present with a cessation of activity and impaired awareness associated with generalized spike and wave on EEG (electroencephalogram). An absence seizure is a generalized onset seizure and therefore, it originates at some point within, and rapidly engages, bilaterally distributed networks. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVIdiopathic generalized epilepsy
- CROGVAbsence seizure
- CROGVJuvenile myoclonic epilepsy

Disease
- Disorder by Site
  - Disorder of nervous system
    - Disorder of the central nervous system
      - Brain disorder
        Epilepsy
        Absence seizure
        Epilepsy, childhood absence 2
        Epilepsy, childhood absence 4
        Epilepsy, childhood absence, susceptibility to, 1
        Epilepsy, childhood absence, susceptibility to, 5
        Epilepsy, childhood absence, susceptibility to, 6

Professional guidelines

PubMed

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.

Le Roux M, Barth M, Gueden S, Desbordes de Cepoy P, Aeby A, Vilain C, Hirsch E, de Saint Martin A, Portes VD, Lesca G, Riquet A, Chaton L, Villeneuve N, Villard L, Cances C, Valton L, Renaldo F, Vermersch AI, Altuzarra C, Nguyen-Morel MA, Van Gils J, Angelini C, Biraben A, Arnaud L, Riant F, Van Bogaert P
Eur J Paediatr Neurol 2021 Jul;33:75-85. Epub 2021 May 26 doi: 10.1016/j.ejpn.2021.05.010. PMID: 34102571

The efficacy and tolerability of pharmacologic treatment options for Lennox-Gastaut syndrome.

Montouris GD, Wheless JW, Glauser TA
Epilepsia 2014 Sep;55 Suppl 4:10-20. doi: 10.1111/epi.12732. PMID: 25284033

Metabotropic glutamate receptors as a strategic target for the treatment of epilepsy.

Alexander GM, Godwin DW
Epilepsy Res 2006 Sep;71(1):1-22. Epub 2006 Jun 19 doi: 10.1016/j.eplepsyres.2006.05.012. PMID: 16787741

See all (6)

Recent clinical studies

Etiology

Drug-resistant idiopathic generalized epilepsy: A meta-analysis of prevalence and risk factors.

Jiang T, Zhang X, Zhang M, Liu M, Zhu H, Sun Y
Epilepsy Behav 2023 Sep;146:109364. Epub 2023 Jul 29 doi: 10.1016/j.yebeh.2023.109364. PMID: 37523796

New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 Patients.

De Falco A, Iolascon A, Ascione F, Piscopo C
Genes (Basel) 2023 May 21;14(5) doi: 10.3390/genes14051116. PMID: 37239476 Free PMC Article

Local Field Potential-Based Programming: A Proof-of-Concept Pilot Study.

Fasano A, Gorodetsky C, Paul D, Germann J, Loh A, Yan H, Carlen PL, Breitbart S, Lozano AM, Ibrahim GM, Kalia SK
Neuromodulation 2022 Feb;25(2):271-275. doi: 10.1111/ner.13520. PMID: 35125146

Lorcaserin for Dravet Syndrome: A Potential Advance Over Fenfluramine?

Bialer M, Perucca E
CNS Drugs 2022 Feb;36(2):113-122. Epub 2022 Jan 30 doi: 10.1007/s40263-022-00896-3. PMID: 35094259

Sleep disorders and ADHD symptoms in children and adolescents with typical absence seizures: An observational study.

Thieux M, Duca M, Putois B, Herbillon V, Cottone C, Parmeggiani A, Arzimanoglou A, de Bellescize J, Franco P
Epilepsy Behav 2022 Mar;128:108513. Epub 2022 Jan 24 doi: 10.1016/j.yebeh.2021.108513. PMID: 35085916

See all (56)

Diagnosis

Generalized nonmotor (absence) seizures-What do absence, generalized, and nonmotor mean?

Unterberger I, Trinka E, Kaplan PW, Walser G, Luef G, Bauer G
Epilepsia 2018 Mar;59(3):523-529. Epub 2018 Jan 11 doi: 10.1111/epi.13996. PMID: 29327337

Animal models of absence epilepsies: what do they model and do sex and sex hormones matter?

van Luijtelaar G, Onat FY, Gallagher MJ
Neurobiol Dis 2014 Dec;72 Pt B:167-79. Epub 2014 Aug 15 doi: 10.1016/j.nbd.2014.08.014. PMID: 25132554 Free PMC Article

Vision-based absence seizure detection.

Pediaditis M, Tsiknakis M, Koumakis L, Karachaliou M, Voutoufianakis S, Vorgia P
Annu Int Conf IEEE Eng Med Biol Soc 2012;2012:65-8. doi: 10.1109/EMBC.2012.6345872. PMID: 23365833

Reading-induced absence seizures.

Singh B, Anderson L, al Gashlan M, al-Shahwan SA, Riela AR
Neurology 1995 Aug;45(8):1623-4. doi: 10.1212/wnl.45.8.1623. PMID: 7644067

The absence epilepsies.

Porter RJ
Epilepsia 1993;34 Suppl 3:S42-8. doi: 10.1111/j.1528-1167.1993.tb06258.x. PMID: 8500432

See all (79)

Therapy

Drug-resistant idiopathic generalized epilepsy: A meta-analysis of prevalence and risk factors.

Jiang T, Zhang X, Zhang M, Liu M, Zhu H, Sun Y
Epilepsy Behav 2023 Sep;146:109364. Epub 2023 Jul 29 doi: 10.1016/j.yebeh.2023.109364. PMID: 37523796

Lorcaserin for Dravet Syndrome: A Potential Advance Over Fenfluramine?

Bialer M, Perucca E
CNS Drugs 2022 Feb;36(2):113-122. Epub 2022 Jan 30 doi: 10.1007/s40263-022-00896-3. PMID: 35094259

Absence epilepsy: Continuum of clinical presentation and epigenetics?

Guilhoto LM
Seizure 2017 Jan;44:53-57. Epub 2016 Dec 6 doi: 10.1016/j.seizure.2016.11.031. PMID: 27986418

The efficacy and tolerability of pharmacologic treatment options for Lennox-Gastaut syndrome.

Montouris GD, Wheless JW, Glauser TA
Epilepsia 2014 Sep;55 Suppl 4:10-20. doi: 10.1111/epi.12732. PMID: 25284033

The absence epilepsies.

Porter RJ
Epilepsia 1993;34 Suppl 3:S42-8. doi: 10.1111/j.1528-1167.1993.tb06258.x. PMID: 8500432

See all (58)

Prognosis

Drug-resistant idiopathic generalized epilepsy: A meta-analysis of prevalence and risk factors.

Jiang T, Zhang X, Zhang M, Liu M, Zhu H, Sun Y
Epilepsy Behav 2023 Sep;146:109364. Epub 2023 Jul 29 doi: 10.1016/j.yebeh.2023.109364. PMID: 37523796

Sleep disorders and ADHD symptoms in children and adolescents with typical absence seizures: An observational study.

Pretreatment seizure semiology in childhood absence epilepsy.

Kessler SK, Shinnar S, Cnaan A, Dlugos D, Conry J, Hirtz DG, Hu F, Liu C, Mizrahi EM, Moshé SL, Clark P, Glauser TA; Childhood Absence Epilepsy Study Group
Neurology 2017 Aug 15;89(7):673-679. Epub 2017 Jul 19 doi: 10.1212/WNL.0000000000004226. PMID: 28724582 Free PMC Article

Absence epilepsy: Continuum of clinical presentation and epigenetics?

Guilhoto LM
Seizure 2017 Jan;44:53-57. Epub 2016 Dec 6 doi: 10.1016/j.seizure.2016.11.031. PMID: 27986418

The absence epilepsies.

Porter RJ
Epilepsia 1993;34 Suppl 3:S42-8. doi: 10.1111/j.1528-1167.1993.tb06258.x. PMID: 8500432

See all (33)

Clinical prediction guides

Drug-resistant idiopathic generalized epilepsy: A meta-analysis of prevalence and risk factors.

Jiang T, Zhang X, Zhang M, Liu M, Zhu H, Sun Y
Epilepsy Behav 2023 Sep;146:109364. Epub 2023 Jul 29 doi: 10.1016/j.yebeh.2023.109364. PMID: 37523796

Cross-Frequency Coupling in Childhood Absence Epilepsy.

Tenney JR, Williamson BJ, Kadis DS
Brain Connect 2022 Jun;12(5):489-496. Epub 2021 Sep 24 doi: 10.1089/brain.2021.0119. PMID: 34405685

Generalized nonmotor (absence) seizures-What do absence, generalized, and nonmotor mean?

Unterberger I, Trinka E, Kaplan PW, Walser G, Luef G, Bauer G
Epilepsia 2018 Mar;59(3):523-529. Epub 2018 Jan 11 doi: 10.1111/epi.13996. PMID: 29327337

Absence epilepsy: Continuum of clinical presentation and epigenetics?

Guilhoto LM
Seizure 2017 Jan;44:53-57. Epub 2016 Dec 6 doi: 10.1016/j.seizure.2016.11.031. PMID: 27986418

The absence epilepsies.

Porter RJ
Epilepsia 1993;34 Suppl 3:S42-8. doi: 10.1111/j.1528-1167.1993.tb06258.x. PMID: 8500432

See all (45)

Recent systematic reviews

Drug-resistant idiopathic generalized epilepsy: A meta-analysis of prevalence and risk factors.

Jiang T, Zhang X, Zhang M, Liu M, Zhu H, Sun Y
Epilepsy Behav 2023 Sep;146:109364. Epub 2023 Jul 29 doi: 10.1016/j.yebeh.2023.109364. PMID: 37523796

See all (1)

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Absence seizure

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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