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Epilepsy, idiopathic generalized, susceptibility to, 13(EIG13)

MedGen UID:
861910
Concept ID:
C4013473
Finding
Synonyms: Epilepsy, juvenile myoclonic 5; EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5
 
Gene (location): GABRA1 (5q34)
 
Monarch Initiative: MONDO:0012627
OMIM®: 611136

Definition

Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called idiopathic generalized epilepsy (IGE, EIG; see 600669). For a phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see 600669. For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy and childhood absence epilepsy, see ECA1 (600131) and JME (254770), respectively. [from OMIM]

Additional description

From MedlinePlus Genetics
Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, stress, or alcohol consumption.  https://medlineplus.gov/genetics/condition/juvenile-myoclonic-epilepsy

Recent clinical studies

Etiology

Karkare KD, Menon RN, Radhakrishnan A, Cherian A, Thomas SV
Seizure 2018 May;58:62-71. Epub 2018 Mar 30 doi: 10.1016/j.seizure.2018.03.027. PMID: 29665529
de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T
Brain 2010 Jan;133(Pt 1):23-32. Epub 2009 Oct 20 doi: 10.1093/brain/awp262. PMID: 19843651Free PMC Article
Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z; EPICURE Consortium, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF
Hum Mol Genet 2009 Oct 1;18(19):3626-31. Epub 2009 Jul 10 doi: 10.1093/hmg/ddp311. PMID: 19592580Free PMC Article
Covanis A
Pediatrics 2006 Oct;118(4):e1237-43. Epub 2006 Sep 1 doi: 10.1542/peds.2006-0623. PMID: 16950946
Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, Turner SJ, Dean JT, Kivity S, Mazarib A, Neufeld MY, Korczyn AD, Harkin LA, Dibbens LM, Wallace RH, Mulley JC, Berkovic SF
Epilepsia 2004 May;45(5):467-78. doi: 10.1111/j.0013-9580.2004.46803.x. PMID: 15101828

Diagnosis

Karkare KD, Menon RN, Radhakrishnan A, Cherian A, Thomas SV
Seizure 2018 May;58:62-71. Epub 2018 Mar 30 doi: 10.1016/j.seizure.2018.03.027. PMID: 29665529
Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE
Ann Neurol 2012 Nov;72(5):807-15. doi: 10.1002/ana.23702. PMID: 23280796
Covanis A
Pediatrics 2006 Oct;118(4):e1237-43. Epub 2006 Sep 1 doi: 10.1542/peds.2006-0623. PMID: 16950946
Tauer U, Lorenz S, Lenzen KP, Heils A, Muhle H, Gresch M, Neubauer BA, Waltz S, Rudolf G, Mattheisen M, Strauch K, Nürnberg P, Schmitz B, Stephani U, Sander T
Ann Neurol 2005 Jun;57(6):866-73. doi: 10.1002/ana.20500. PMID: 15929039
Briellmann RS, Torn-Broers Y, Berkovic SF
Epilepsia 2001 Nov;42(11):1399-402. doi: 10.1046/j.1528-1157.2001.03201.x. PMID: 11879341

Therapy

Mangano S, Nardello R, Tripi G, Giordano G, Spitaleri C, Mangano GR, Fontana A
BMC Neurol 2013 May 24;13:48. doi: 10.1186/1471-2377-13-48. PMID: 23705971Free PMC Article
Covanis A
Pediatrics 2006 Oct;118(4):e1237-43. Epub 2006 Sep 1 doi: 10.1542/peds.2006-0623. PMID: 16950946

Prognosis

Mangano S, Nardello R, Tripi G, Giordano G, Spitaleri C, Mangano GR, Fontana A
BMC Neurol 2013 May 24;13:48. doi: 10.1186/1471-2377-13-48. PMID: 23705971Free PMC Article
Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE
Ann Neurol 2012 Nov;72(5):807-15. doi: 10.1002/ana.23702. PMID: 23280796
von Spiczak S, Finsterwalder K, Muhle H, Franke A, Schilhabel M, Stephani U, Helbig I
Epilepsia 2011 Oct;52(10):e143-7. Epub 2011 Aug 29 doi: 10.1111/j.1528-1167.2011.03197.x. PMID: 21883175
Covanis A
Pediatrics 2006 Oct;118(4):e1237-43. Epub 2006 Sep 1 doi: 10.1542/peds.2006-0623. PMID: 16950946
Doose H, Hahn A, Neubauer BA, Pistohl J, Stephani U
Neuropediatrics 2001 Feb;32(1):9-13. doi: 10.1055/s-2001-12215. PMID: 11315204

Clinical prediction guides

Karkare KD, Menon RN, Radhakrishnan A, Cherian A, Thomas SV
Seizure 2018 May;58:62-71. Epub 2018 Mar 30 doi: 10.1016/j.seizure.2018.03.027. PMID: 29665529
de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T
Brain 2010 Jan;133(Pt 1):23-32. Epub 2009 Oct 20 doi: 10.1093/brain/awp262. PMID: 19843651Free PMC Article
Singh B, Monteil A, Bidaud I, Sugimoto Y, Suzuki T, Hamano S, Oguni H, Osawa M, Alonso ME, Delgado-Escueta AV, Inoue Y, Yasui-Furukori N, Kaneko S, Lory P, Yamakawa K
Hum Mutat 2007 May;28(5):524-5. doi: 10.1002/humu.9491. PMID: 17397049
Lorenz S, Heils A, Kasper JM, Sander T
Am J Med Genet B Neuropsychiatr Genet 2007 Jan 5;144B(1):10-3. doi: 10.1002/ajmg.b.30369. PMID: 16958040
Tauer U, Lorenz S, Lenzen KP, Heils A, Muhle H, Gresch M, Neubauer BA, Waltz S, Rudolf G, Mattheisen M, Strauch K, Nürnberg P, Schmitz B, Stephani U, Sander T
Ann Neurol 2005 Jun;57(6):866-73. doi: 10.1002/ana.20500. PMID: 15929039

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