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Juvenile absence epilepsy

MedGen UID:
1388059
•Concept ID:
C4317339
•
Disease or Syndrome
Synonyms: Absence Epilepsy, Juvenile; Epilepsy Juvenile Absence; Epilepsy, Juvenile Absence; Juvenile Absence Epilepsy
SNOMED CT: Juvenile absence epilepsy (230413002); JAE - juvenile absence epilepsy (230413002)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Non-Mendelian inheritance (Orphanet)
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0800453
Orphanet: ORPHA1941

Definition

A type of epilepsy that presents with typical absence seizures between 9 and 13 years of age in an otherwise normal adolescent. The typical absence seizures usually occur less than daily in the untreated state and are provoked by hyperventilation in 87 percent of cases. Generalized tonic-clonic seizures are seen in greater than 90 percent of cases, most commonly beginning shortly after onset of absence seizures. Myoclonic seizures do not occur. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave with a normal background. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVJuvenile 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
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
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

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
The causal effect of serum 25-hydroxyvitamin D levels on epilepsy: A two-sample Mendelian randomization study.
Luo X, Ruan Z, Liu L
Epilepsia Open 2023 Sep;8(3):912-917. Epub 2023 May 15 doi: 10.1002/epi4.12758. PMID: 37158995Free PMC Article
Childhood vs. juvenile absence epilepsy: How to make a diagnosis.
Asadi-Pooya AA, Farazdaghi M
Seizure 2022 Nov;102:125-128. Epub 2022 Oct 6 doi: 10.1016/j.seizure.2022.10.008. PMID: 36223676
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
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

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
Childhood vs. juvenile absence epilepsy: How to make a diagnosis.
Asadi-Pooya AA, Farazdaghi M
Seizure 2022 Nov;102:125-128. Epub 2022 Oct 6 doi: 10.1016/j.seizure.2022.10.008. PMID: 36223676
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
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
Idiopathic generalized epilepsies.
Caraballo RH, Dalla Bernardina B
Handb Clin Neurol 2013;111:579-89. doi: 10.1016/B978-0-444-52891-9.00060-9. PMID: 23622205

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
The causal effect of serum 25-hydroxyvitamin D levels on epilepsy: A two-sample Mendelian randomization study.
Luo X, Ruan Z, Liu L
Epilepsia Open 2023 Sep;8(3):912-917. Epub 2023 May 15 doi: 10.1002/epi4.12758. PMID: 37158995Free 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
The absence epilepsies.
Porter RJ
Epilepsia 1993;34 Suppl 3:S42-8. doi: 10.1111/j.1528-1167.1993.tb06258.x. PMID: 8500432

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

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
Clinical and Electrophysiological Features Predicting Response to Antiseizure Medications in Juvenile Absence Epilepsy.
Karaoğlu P, Tekin HG
Neuropediatrics 2023 Feb;54(1):2-5. Epub 2022 Dec 23 doi: 10.1055/s-0042-1757709. PMID: 36564022
Childhood vs. juvenile absence epilepsy: How to make a diagnosis.
Asadi-Pooya AA, Farazdaghi M
Seizure 2022 Nov;102:125-128. Epub 2022 Oct 6 doi: 10.1016/j.seizure.2022.10.008. PMID: 36223676
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
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
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

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