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Childhood absence epilepsy

MedGen UID:
924120
•Concept ID:
C4281785
•
Disease or Syndrome
Synonyms: Absence Epilepsy, Childhood; Childhood Absence Epilepsy; Epilepsy, Childhood Absence; Pykno Epilepsy; Pykno-Epilepsy; Pyknolepsies; Pyknolepsy
SNOMED CT: CAE - childhood absence epilepsy (50866000); Childhood absence epilepsy (50866000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010826
OMIM® Phenotypic series: PS600131
Orphanet: ORPHA64280

Definition

A type of epilepsy that presents with daily typical absence seizures usually between 4 to 10 years of age in an otherwise normal child. Absence seizures are brief but may occur in clusters and are provoked by hyperventilation. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 2.5 to 4 Hz generalised spike-wave and a normal background. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Childhood absence epilepsy

Professional guidelines

PubMed

ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions.
Hirsch E, French J, Scheffer IE, Bogacz A, Alsaadi T, Sperling MR, Abdulla F, Zuberi SM, Trinka E, Specchio N, Somerville E, Samia P, Riney K, Nabbout R, Jain S, Wilmshurst JM, Auvin S, Wiebe S, Perucca E, Moshé SL, Tinuper P, Wirrell EC
Epilepsia 2022 Jun;63(6):1475-1499. Epub 2022 May 3 doi: 10.1111/epi.17236. PMID: 35503716
Epilepsy: Epileptic Syndromes and Treatment.
Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386
A Practical Guide to Treatment of Childhood Absence Epilepsy.
Kessler SK, McGinnis E
Paediatr Drugs 2019 Feb;21(1):15-24. doi: 10.1007/s40272-019-00325-x. PMID: 30734897Free PMC Article

Recent clinical studies

Etiology

Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.
Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
School performance and psychiatric comorbidity in childhood absence epilepsy: A Danish cohort study.
Boesen MS, Børresen ML, Christensen SK, Klein-Petersen AW, El Mahdaoui S, Sagar MV, Schou E, Eltvedt AK, Cacic Hribljan M, Born AP, Uldall PV, Thygesen LC, Miranda MJ
Eur J Paediatr Neurol 2023 Jan;42:75-81. Epub 2022 Dec 24 doi: 10.1016/j.ejpn.2022.12.008. PMID: 36584475
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
Thakran S, Guin D, Singh P, Singh P, Kukal S, Rawat C, Yadav S, Kushwaha SS, Srivastava AK, Hasija Y, Saso L, Ramachandran S, Kukreti R
Int J Mol Sci 2020 Oct 21;21(20) doi: 10.3390/ijms21207784. PMID: 33096746Free PMC Article
Childhood absence epilepsy and benign epilepsy with centro-temporal spikes: a narrative review analysis.
Verrotti A, D'Alonzo R, Rinaldi VE, Casciato S, D'Aniello A, Di Gennaro G
World J Pediatr 2017 Apr;13(2):106-111. Epub 2017 Jan 15 doi: 10.1007/s12519-017-0006-9. PMID: 28101769
Pediatric epilepsy syndromes.
Glauser TA
Curr Opin Pediatr 1995 Dec;7(6):640-9. doi: 10.1097/00008480-199512000-00003. PMID: 8776013

Diagnosis

Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.
Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
Epilepsy: Epileptic Syndromes and Treatment.
Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
Thakran S, Guin D, Singh P, Singh P, Kukal S, Rawat C, Yadav S, Kushwaha SS, Srivastava AK, Hasija Y, Saso L, Ramachandran S, Kukreti R
Int J Mol Sci 2020 Oct 21;21(20) doi: 10.3390/ijms21207784. PMID: 33096746Free PMC Article
A Practical Guide to Treatment of Childhood Absence Epilepsy.
Kessler SK, McGinnis E
Paediatr Drugs 2019 Feb;21(1):15-24. doi: 10.1007/s40272-019-00325-x. PMID: 30734897Free PMC Article
The glucose transporter type 1 (Glut1) syndromes.
Koch H, Weber YG
Epilepsy Behav 2019 Feb;91:90-93. Epub 2018 Jul 31 doi: 10.1016/j.yebeh.2018.06.010. PMID: 30076047

Therapy

Antiseizure medications for idiopathic generalized epilepsies: a systematic review and network meta-analysis.
Chu H, Zhang X, Shi J, Zhou Z, Yang X
J Neurol 2023 Oct;270(10):4713-4728. Epub 2023 Jun 28 doi: 10.1007/s00415-023-11834-8. PMID: 37378757Free PMC Article
Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.
Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
A Practical Guide to Treatment of Childhood Absence Epilepsy.
Kessler SK, McGinnis E
Paediatr Drugs 2019 Feb;21(1):15-24. doi: 10.1007/s40272-019-00325-x. PMID: 30734897Free PMC Article
Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society.
Kanner AM, Ashman E, Gloss D, Harden C, Bourgeois B, Bautista JF, Abou-Khalil B, Burakgazi-Dalkilic E, Llanas Park E, Stern J, Hirtz D, Nespeca M, Gidal B, Faught E, French J
Neurology 2018 Jul 10;91(2):74-81. Epub 2018 Jun 13 doi: 10.1212/WNL.0000000000005755. PMID: 29898971
Updated ILAE evidence review of antiepileptic drug efficacy and effectiveness as initial monotherapy for epileptic seizures and syndromes.
Glauser T, Ben-Menachem E, Bourgeois B, Cnaan A, Guerreiro C, Kälviäinen R, Mattson R, French JA, Perucca E, Tomson T; ILAE Subcommission on AED Guidelines
Epilepsia 2013 Mar;54(3):551-63. Epub 2013 Jan 25 doi: 10.1111/epi.12074. PMID: 23350722

Prognosis

Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.
Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions.
Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, Guerreiro M, Gwer S, Zuberi SM, Wilmshurst JM, Yozawitz E, Pressler R, Hirsch E, Wiebe S, Cross HJ, Perucca E, Moshé SL, Tinuper P, Auvin S
Epilepsia 2022 Jun;63(6):1398-1442. Epub 2022 May 3 doi: 10.1111/epi.17241. PMID: 35503717
Epilepsy: Epileptic Syndromes and Treatment.
Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
Thakran S, Guin D, Singh P, Singh P, Kukal S, Rawat C, Yadav S, Kushwaha SS, Srivastava AK, Hasija Y, Saso L, Ramachandran S, Kukreti R
Int J Mol Sci 2020 Oct 21;21(20) doi: 10.3390/ijms21207784. PMID: 33096746Free PMC Article
A Practical Guide to Treatment of Childhood Absence Epilepsy.
Kessler SK, McGinnis E
Paediatr Drugs 2019 Feb;21(1):15-24. doi: 10.1007/s40272-019-00325-x. PMID: 30734897Free PMC Article

Clinical prediction guides

Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.
Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
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
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
Thakran S, Guin D, Singh P, Singh P, Kukal S, Rawat C, Yadav S, Kushwaha SS, Srivastava AK, Hasija Y, Saso L, Ramachandran S, Kukreti R
Int J Mol Sci 2020 Oct 21;21(20) doi: 10.3390/ijms21207784. PMID: 33096746Free PMC Article
A Practical Guide to Treatment of Childhood Absence Epilepsy.
Kessler SK, McGinnis E
Paediatr Drugs 2019 Feb;21(1):15-24. doi: 10.1007/s40272-019-00325-x. PMID: 30734897Free PMC Article
The absence epilepsies.
Porter RJ
Epilepsia 1993;34 Suppl 3:S42-8. doi: 10.1111/j.1528-1167.1993.tb06258.x. PMID: 8500432

Recent systematic reviews

Antiseizure medications for idiopathic generalized epilepsies: a systematic review and network meta-analysis.
Chu H, Zhang X, Shi J, Zhou Z, Yang X
J Neurol 2023 Oct;270(10):4713-4728. Epub 2023 Jun 28 doi: 10.1007/s00415-023-11834-8. PMID: 37378757Free PMC Article
Absence seizures and their relationship to depression and anxiety: Evidence for bidirectionality.
Gruenbaum BF, Sandhu MRS, Bertasi RAO, Bertasi TGO, Schonwald A, Kurup A, Gruenbaum SE, Freedman IG, Funaro MC, Blumenfeld H, Sanacora G
Epilepsia 2021 May;62(5):1041-1056. Epub 2021 Mar 10 doi: 10.1111/epi.16862. PMID: 33751566Free PMC Article
Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy.
Torabian P, Dehestani M, Morshedi Rad D, Peiravi S, Aghaie-Hakkak M, Ashraf H
Arch Iran Med 2019 Sep 1;22(9):516-526. PMID: 31679374
Systematic review of the screening, diagnosis, and management of ADHD in children with epilepsy. Consensus paper of the Task Force on Comorbidities of the ILAE Pediatric Commission.
Auvin S, Wirrell E, Donald KA, Berl M, Hartmann H, Valente KD, Van Bogaert P, Cross JH, Osawa M, Kanemura H, Aihara M, Guerreiro MM, Samia P, Vinayan KP, Smith ML, Carmant L, Kerr M, Hermann B, Dunn D, Wilmshurst JM
Epilepsia 2018 Oct;59(10):1867-1880. Epub 2018 Sep 3 doi: 10.1111/epi.14549. PMID: 30178479
Ethosuximide, sodium valproate or lamotrigine for absence seizures in children and adolescents.
Brigo F, Igwe SC
Cochrane Database Syst Rev 2017 Feb 14;2(2):CD003032. doi: 10.1002/14651858.CD003032.pub3. PMID: 28195639Free PMC Article

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