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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  
  • CROGVChildhood 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
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
Cognitive functioning in idiopathic generalised epilepsies: a systematic review and meta-analysis.
Loughman A, Bowden SC, D'Souza W
Neurosci Biobehav Rev 2014 Jun;43:20-34. Epub 2014 Mar 14 doi: 10.1016/j.neubiorev.2014.02.012. PMID: 24631851
Absence epilepsies.
Loiseau P, Duché B, Pédespan JM
Epilepsia 1995 Dec;36(12):1182-6. doi: 10.1111/j.1528-1157.1995.tb01060.x. PMID: 7489694
Epilepsy with myoclonic absences.
Manonmani V, Wallace SJ
Arch Dis Child 1994 Apr;70(4):288-90. doi: 10.1136/adc.70.4.288. PMID: 8185360Free PMC Article

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
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
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
Diagnosing and managing childhood absence epilepsy by telemedicine.
Stafstrom CE, Sun LR, Kossoff EH, Dabrowski AK, Singhi S, Kelley SA
Epilepsy Behav 2021 Feb;115:107404. Epub 2020 Dec 13 doi: 10.1016/j.yebeh.2020.107404. PMID: 33323339
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
Cognitive functioning in idiopathic generalised epilepsies: a systematic review and meta-analysis.
Loughman A, Bowden SC, D'Souza W
Neurosci Biobehav Rev 2014 Jun;43:20-34. Epub 2014 Mar 14 doi: 10.1016/j.neubiorev.2014.02.012. PMID: 24631851

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
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

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
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
Cognitive functioning in idiopathic generalised epilepsies: a systematic review and meta-analysis.
Loughman A, Bowden SC, D'Souza W
Neurosci Biobehav Rev 2014 Jun;43:20-34. Epub 2014 Mar 14 doi: 10.1016/j.neubiorev.2014.02.012. PMID: 24631851
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
EEG of asymptomatic first-degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta-analysis.
Tashkandi M, Baarma D, Tricco AC, Boelman C, Alkhater R, Minassian BA
Epileptic Disord 2019 Feb 1;21(1):30-41. doi: 10.1684/epd.2019.1024. PMID: 30767897
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
Cognitive functioning in idiopathic generalised epilepsies: a systematic review and meta-analysis.
Loughman A, Bowden SC, D'Souza W
Neurosci Biobehav Rev 2014 Jun;43:20-34. Epub 2014 Mar 14 doi: 10.1016/j.neubiorev.2014.02.012. PMID: 24631851

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