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Epilepsy, juvenile absence, susceptibility to, 1(EJA1)

MedGen UID:
413426
•Concept ID:
C2750892
•
Finding
Synonym: EJA1
 
Gene (location): EFHC1 (6p12.2)
 
Monarch Initiative: MONDO:0020772
OMIM®: 607631

Definition

Juvenile absence epilepsy is a subtype of idiopathic generalized epilepsy (IGE; see 600669). Manifestations occur around puberty, in contrast to childhood absence epilepsy (CAE; 600131), which begins at age 6 to 7 years. Absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures are the main features of JAE. (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). Genetic Heterogeneity of Juvenile Absence Epilepsy See also susceptibility to juvenile absence epilepsy-2 (EJA2; see 607628), conferred by variation in the CLCN2 gene (600570) on chromosome 3q26. [from OMIM]

Clinical features

From HPO
Bilateral tonic-clonic seizure on awakening
MedGen UID:
335621
•Concept ID:
C1847165
•
Disease or Syndrome
Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day).
See: Feature record | Search on this feature
Generalized myoclonic seizure
MedGen UID:
892704
•Concept ID:
C4021759
•
Disease or Syndrome
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
See: Feature record | Search on this feature
EEG with spike-wave complexes (>3.5 Hz)
MedGen UID:
892339
•Concept ID:
C4023684
•
Finding
The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).
See: Feature record | Search on this feature
Generalized non-motor (absence) seizure
MedGen UID:
1385688
•Concept ID:
C4316903
•
Disease or Syndrome
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Systemic inflammation as a biomarker of seizure propensity and a target for treatment to reduce seizure propensity.
Stredny C, Rotenberg A, Leviton A, Loddenkemper T
Epilepsia Open 2023 Mar;8(1):221-234. Epub 2023 Jan 23 doi: 10.1002/epi4.12684. PMID: 36524286Free PMC Article
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.
Lee CG, Lee J, Lee M
PLoS One 2018;13(6):e0199321. Epub 2018 Jun 20 doi: 10.1371/journal.pone.0199321. PMID: 29924869Free PMC Article
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.
Thomas RH, Chung SK, Wood SE, Cushion TD, Drew CJ, Hammond CL, Vanbellinghen JF, Mullins JG, Rees MI
Brain 2013 Oct;136(Pt 10):3085-95. Epub 2013 Sep 11 doi: 10.1093/brain/awt207. PMID: 24030948

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
Mendelian randomization study shows a causal effect of asthma on epilepsy risk.
Tang P, Guo X, Chong L, Li R
Front Immunol 2023;14:1071580. Epub 2023 Feb 13 doi: 10.3389/fimmu.2023.1071580. PMID: 36860869Free PMC Article
An update on the central nervous system manifestations of neurofibromatosis type 1.
Nix JS, Blakeley J, Rodriguez FJ
Acta Neuropathol 2020 Apr;139(4):625-641. Epub 2019 Apr 8 doi: 10.1007/s00401-019-02002-2. PMID: 30963251Free PMC Article
Childhood Absence Epilepsy evolving to Eyelid Myoclonia with Absence Epilepsy.
Galli J, Micheletti S, Malerba L, Fazzi E, Giordano L
Seizure 2018 Oct;61:1-3. Epub 2018 Jul 18 doi: 10.1016/j.seizure.2018.07.009. PMID: 30029089
Genetic generalized epilepsies.
Mullen SA, Berkovic SF; ILAE Genetics Commission
Epilepsia 2018 Jun;59(6):1148-1153. Epub 2018 May 9 doi: 10.1111/epi.14042. PMID: 29741207

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
Mendelian randomization study shows a causal effect of asthma on epilepsy risk.
Tang P, Guo X, Chong L, Li R
Front Immunol 2023;14:1071580. Epub 2023 Feb 13 doi: 10.3389/fimmu.2023.1071580. PMID: 36860869Free PMC Article
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S; Genomics England Research Consortium, Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS
Genet Med 2021 Nov;23(11):2122-2137. Epub 2021 Aug 3 doi: 10.1038/s41436-021-01246-2. PMID: 34345025Free PMC Article
An update on the central nervous system manifestations of neurofibromatosis type 1.
Nix JS, Blakeley J, Rodriguez FJ
Acta Neuropathol 2020 Apr;139(4):625-641. Epub 2019 Apr 8 doi: 10.1007/s00401-019-02002-2. PMID: 30963251Free PMC Article
Genetic generalized epilepsies.
Mullen SA, Berkovic SF; ILAE Genetics Commission
Epilepsia 2018 Jun;59(6):1148-1153. Epub 2018 May 9 doi: 10.1111/epi.14042. PMID: 29741207

Therapy

Mendelian randomization reveals no causal relationship between COVID-19 susceptibility, hospitalization, or severity and epilepsy.
He Z, Li Y, Liu S, Li J
Epilepsia Open 2023 Dec;8(4):1452-1459. Epub 2023 Aug 26 doi: 10.1002/epi4.12818. PMID: 37602490Free 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
Mendelian randomization study shows a causal effect of asthma on epilepsy risk.
Tang P, Guo X, Chong L, Li R
Front Immunol 2023;14:1071580. Epub 2023 Feb 13 doi: 10.3389/fimmu.2023.1071580. PMID: 36860869Free PMC Article
Research Progress on the Effect of Epilepsy and Antiseizure Medications on PCOS Through HPO Axis.
Li S, Zhang L, Wei N, Tai Z, Yu C, Xu Z
Front Endocrinol (Lausanne) 2021;12:787854. Epub 2021 Dec 21 doi: 10.3389/fendo.2021.787854. PMID: 34992582Free PMC Article
Childhood Absence Epilepsy evolving to Eyelid Myoclonia with Absence Epilepsy.
Galli J, Micheletti S, Malerba L, Fazzi E, Giordano L
Seizure 2018 Oct;61:1-3. Epub 2018 Jul 18 doi: 10.1016/j.seizure.2018.07.009. PMID: 30029089

Prognosis

Mendelian randomization reveals no causal relationship between COVID-19 susceptibility, hospitalization, or severity and epilepsy.
He Z, Li Y, Liu S, Li J
Epilepsia Open 2023 Dec;8(4):1452-1459. Epub 2023 Aug 26 doi: 10.1002/epi4.12818. PMID: 37602490Free 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
Testicular androgens determining the incidence of spike-wave discharges in taiep rats: A model of H-ABC leukodystrophy.
Carmen C, Ibarra-Hernández JM, Estefania GP, Eguibar JR
Neurosci Lett 2022 Jun 21;782:136684. Epub 2022 May 17 doi: 10.1016/j.neulet.2022.136684. PMID: 35595190
De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.
Xie H, Su W, Pei J, Zhang Y, Gao K, Li J, Ma X, Zhang Y, Wu X, Jiang Y
Epilepsy Res 2019 Aug;154:55-61. Epub 2019 Apr 22 doi: 10.1016/j.eplepsyres.2019.04.005. PMID: 31054517
Diagnosis and long-term course of Dravet syndrome.
Scheffer IE
Eur J Paediatr Neurol 2012 Sep;16 Suppl 1:S5-8. Epub 2012 Jun 16 doi: 10.1016/j.ejpn.2012.04.007. PMID: 22704920

Clinical prediction guides

Mendelian randomization reveals no causal relationship between COVID-19 susceptibility, hospitalization, or severity and epilepsy.
He Z, Li Y, Liu S, Li J
Epilepsia Open 2023 Dec;8(4):1452-1459. Epub 2023 Aug 26 doi: 10.1002/epi4.12818. PMID: 37602490Free PMC Article
Exploring the bidirectional causal link between household income status and genetic susceptibility to neurological diseases: findings from a Mendelian randomization study.
Nong W, Mo G, Luo C
Front Public Health 2023;11:1202747. Epub 2023 Jul 26 doi: 10.3389/fpubh.2023.1202747. PMID: 37564429Free 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
Mendelian randomization study shows a causal effect of asthma on epilepsy risk.
Tang P, Guo X, Chong L, Li R
Front Immunol 2023;14:1071580. Epub 2023 Feb 13 doi: 10.3389/fimmu.2023.1071580. PMID: 36860869Free PMC Article
De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.
Xie H, Su W, Pei J, Zhang Y, Gao K, Li J, Ma X, Zhang Y, Wu X, Jiang Y
Epilepsy Res 2019 Aug;154:55-61. Epub 2019 Apr 22 doi: 10.1016/j.eplepsyres.2019.04.005. PMID: 31054517

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