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Epilepsy, juvenile myoclonic 5(EIG13)

MedGen UID:
442345
Concept ID:
C2749942
Disease or Syndrome; Finding
Synonyms: EIG13; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5; GABRA1-Related Juvenile Myoclonic Epilepsy
 
Gene (location): GABRA1 (5q34)
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 GHR
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://ghr.nlm.nih.gov/condition/juvenile-myoclonic-epilepsy

Recent clinical studies

Etiology

Chowdhury A, Brodie MJ
Epilepsy Res 2016 Jan;119:62-6. Epub 2015 Dec 1 doi: 10.1016/j.eplepsyres.2015.11.012. PMID: 26675554
Uchida CG, de Carvalho KC, Guaranha MS, Guilhoto LM, de Araújo Filho GM, Wolf P, Yacubian EM
Seizure 2015 Nov;32:62-8. Epub 2015 Sep 25 doi: 10.1016/j.seizure.2015.09.011. PMID: 26552565
Höfler J, Unterberger I, Dobesberger J, Kuchukhidze G, Walser G, Trinka E
Epilepsy Res 2014 Dec;108(10):1817-24. Epub 2014 Sep 20 doi: 10.1016/j.eplepsyres.2014.09.008. PMID: 25443450
Wandschneider B, Centeno M, Vollmar C, Symms M, Thompson PJ, Duncan JS, Koepp MJ
Brain 2014 Sep;137(Pt 9):2469-79. Epub 2014 Jul 7 doi: 10.1093/brain/awu175. PMID: 25001494Free PMC Article
Schneider-von Podewils F, Gasse C, Geithner J, Wang ZI, Bombach P, Berneiser J, Herzer R, Kessler C, Runge U
Epilepsia 2014 Feb;55(2):322-30. Epub 2014 Jan 13 doi: 10.1111/epi.12491. PMID: 24417603

Diagnosis

Chowdhury A, Brodie MJ
Epilepsy Res 2016 Jan;119:62-6. Epub 2015 Dec 1 doi: 10.1016/j.eplepsyres.2015.11.012. PMID: 26675554
Uchida CG, de Carvalho KC, Guaranha MS, Guilhoto LM, de Araújo Filho GM, Wolf P, Yacubian EM
Seizure 2015 Nov;32:62-8. Epub 2015 Sep 25 doi: 10.1016/j.seizure.2015.09.011. PMID: 26552565
Somayajula S, Vooturi S, Jayalakshmi S
Epilepsy Behav 2015 Dec;53:37-42. Epub 2015 Oct 28 doi: 10.1016/j.yebeh.2015.09.024. PMID: 26519664
Wandschneider B, Centeno M, Vollmar C, Symms M, Thompson PJ, Duncan JS, Koepp MJ
Brain 2014 Sep;137(Pt 9):2469-79. Epub 2014 Jul 7 doi: 10.1093/brain/awu175. PMID: 25001494Free PMC Article
Schneider-von Podewils F, Gasse C, Geithner J, Wang ZI, Bombach P, Berneiser J, Herzer R, Kessler C, Runge U
Epilepsia 2014 Feb;55(2):322-30. Epub 2014 Jan 13 doi: 10.1111/epi.12491. PMID: 24417603

Therapy

Chowdhury A, Brodie MJ
Epilepsy Res 2016 Jan;119:62-6. Epub 2015 Dec 1 doi: 10.1016/j.eplepsyres.2015.11.012. PMID: 26675554
Uchida CG, de Carvalho KC, Guaranha MS, Guilhoto LM, de Araújo Filho GM, Wolf P, Yacubian EM
Seizure 2015 Nov;32:62-8. Epub 2015 Sep 25 doi: 10.1016/j.seizure.2015.09.011. PMID: 26552565
Höfler J, Unterberger I, Dobesberger J, Kuchukhidze G, Walser G, Trinka E
Epilepsy Res 2014 Dec;108(10):1817-24. Epub 2014 Sep 20 doi: 10.1016/j.eplepsyres.2014.09.008. PMID: 25443450
Wandschneider B, Centeno M, Vollmar C, Symms M, Thompson PJ, Duncan JS, Koepp MJ
Brain 2014 Sep;137(Pt 9):2469-79. Epub 2014 Jul 7 doi: 10.1093/brain/awu175. PMID: 25001494Free PMC Article
Syvertsen MR, Thuve S, Stordrange BS, Brodtkorb E
Seizure 2014 May;23(5):344-8. Epub 2014 Jan 23 doi: 10.1016/j.seizure.2014.01.012. PMID: 24512779

Prognosis

Chowdhury A, Brodie MJ
Epilepsy Res 2016 Jan;119:62-6. Epub 2015 Dec 1 doi: 10.1016/j.eplepsyres.2015.11.012. PMID: 26675554
Uchida CG, de Carvalho KC, Guaranha MS, Guilhoto LM, de Araújo Filho GM, Wolf P, Yacubian EM
Seizure 2015 Nov;32:62-8. Epub 2015 Sep 25 doi: 10.1016/j.seizure.2015.09.011. PMID: 26552565
Somayajula S, Vooturi S, Jayalakshmi S
Epilepsy Behav 2015 Dec;53:37-42. Epub 2015 Oct 28 doi: 10.1016/j.yebeh.2015.09.024. PMID: 26519664
Höfler J, Unterberger I, Dobesberger J, Kuchukhidze G, Walser G, Trinka E
Epilepsy Res 2014 Dec;108(10):1817-24. Epub 2014 Sep 20 doi: 10.1016/j.eplepsyres.2014.09.008. PMID: 25443450
Schneider-von Podewils F, Gasse C, Geithner J, Wang ZI, Bombach P, Berneiser J, Herzer R, Kessler C, Runge U
Epilepsia 2014 Feb;55(2):322-30. Epub 2014 Jan 13 doi: 10.1111/epi.12491. PMID: 24417603

Clinical prediction guides

Somayajula S, Vooturi S, Jayalakshmi S
Epilepsy Behav 2015 Dec;53:37-42. Epub 2015 Oct 28 doi: 10.1016/j.yebeh.2015.09.024. PMID: 26519664
Rzezak P, Moschetta SP, Lima E, Castro CX, Vincentiis S, Coan AC, Guerreiro C, Filho GB, Valente KD
Epilepsy Behav 2015 Apr;45:44-8. Epub 2015 Mar 25 doi: 10.1016/j.yebeh.2015.02.028. PMID: 25819744
Höfler J, Unterberger I, Dobesberger J, Kuchukhidze G, Walser G, Trinka E
Epilepsy Res 2014 Dec;108(10):1817-24. Epub 2014 Sep 20 doi: 10.1016/j.eplepsyres.2014.09.008. PMID: 25443450
Syvertsen MR, Thuve S, Stordrange BS, Brodtkorb E
Seizure 2014 May;23(5):344-8. Epub 2014 Jan 23 doi: 10.1016/j.seizure.2014.01.012. PMID: 24512779
Schneider-von Podewils F, Gasse C, Geithner J, Wang ZI, Bombach P, Berneiser J, Herzer R, Kessler C, Runge U
Epilepsia 2014 Feb;55(2):322-30. Epub 2014 Jan 13 doi: 10.1111/epi.12491. PMID: 24417603

Recent systematic reviews

EPICURE Consortium., Leu C, de Kovel CG, Zara F, Striano P, Pezzella M, Robbiano A, Bianchi A, Bisulli F, Coppola A, Giallonardo AT, Beccaria F, Trenité DK, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Kleefuss-Lie AA, Hallman K, Kunz WS, Elger CE, Muhle H, Stephani U, Møller RS, Hjalgrim H, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Nabbout R, Baulac S, Leguern E, Serratosa JM, Rosenow F, Feucht M, Unterberger I, Covanis A, Suls A, Weckhuysen S, Kaneva R, Caglayan H, Turkdogan D, Baykan B, Bebek N, Ozbek U, Hempelmann A, Schulz H, Rüschendorf F, Trucks H, Nürnberg P, Avanzini G, Koeleman BP, Sander T
Epilepsia 2012 Feb;53(2):308-18. Epub 2012 Jan 13 doi: 10.1111/j.1528-1167.2011.03379.x. PMID: 22242659
Simard-Tremblay E, Shevell M
J Child Neurol 2009 Oct;24(10):1243-9. Epub 2009 Aug 11 doi: 10.1177/0883073809334381. PMID: 19671891
Gaillard WD, Chiron C, Cross JH, Harvey AS, Kuzniecky R, Hertz-Pannier L, Vezina LG; ILAE, Committee for Neuroimaging, Subcommittee for Pediatric.
Epilepsia 2009 Sep;50(9):2147-53. Epub 2009 Apr 6 doi: 10.1111/j.1528-1167.2009.02075.x. PMID: 19389145

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