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Myoclonic epilepsy, juvenile, susceptibility to, 3(EJM3)

MedGen UID:
324732
•Concept ID:
C1837308
•
Disease or Syndrome
Synonyms: EJM3; EJM3-Related Juvenile Myoclonic Epilepsy; Myoclonic epilepsy, juvenile 3
 
Monarch Initiative: MONDO:0012134
OMIM®: 608816

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
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
Association of serotonin transporter gene (5HTT) polymorphism and juvenile myoclonic epilepsy: a case-control study.
Esmail EH, Labib DM, Rabie WA
Acta Neurol Belg 2015 Sep;115(3):247-51. Epub 2014 Dec 7 doi: 10.1007/s13760-014-0400-1. PMID: 25481722
The unexpected role of copy number variations in juvenile myoclonic epilepsy.
Helbig I, Hartmann C, Mefford HC
Epilepsy Behav 2013 Jul;28 Suppl 1:S66-8. doi: 10.1016/j.yebeh.2012.07.005. PMID: 23756484
The quest for juvenile myoclonic epilepsy genes.
Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT, Durón RM
Epilepsy Behav 2013 Jul;28 Suppl 1:S52-7. doi: 10.1016/j.yebeh.2012.06.033. PMID: 23756480

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
Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome.
Fanella M, Frascarelli M, Lambiase C, Morano A, Unolt M, Liberati N, Fattouch J, Buzzanca A, Accinni T, Ceccanti M, Viganò A, Biondi M, Colonnese C, Giallonardo AT, Di Fabio F, Pizzuti A, Di Bonaventura C, Berardelli A
J Med Genet 2020 Mar;57(3):151-159. Epub 2019 Sep 10 doi: 10.1136/jmedgenet-2019-106223. PMID: 31506323
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
Why do seizures in generalized epilepsy often occur in the morning?
Badawy RA, Macdonell RA, Jackson GD, Berkovic SF
Neurology 2009 Jul 21;73(3):218-22. doi: 10.1212/WNL.0b013e3181ae7ca6. PMID: 19620610
Evidence for linkage between juvenile myoclonic epilepsy-related idiopathic generalized epilepsy and 6p11-12 in Dutch families.
Pinto D, de Haan GJ, Janssen GA, Boezeman EH, van Erp MG, Westland B, Witte J, Bader A, Halley DJ, Kasteleijn-Nolst Trenité DG, Lindhout D, Koeleman BP
Epilepsia 2004 Mar;45(3):211-7. doi: 10.1111/j.0013-9580.2004.36003.x. PMID: 15009221

Therapy

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 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
Case-control pharmacogenetic study of HCN1/HCN2 variants and genetic generalized epilepsies.
Wu SZ, Ye H, Yang XG, Lu ZL, Qu Q, Qu J
Clin Exp Pharmacol Physiol 2018 Mar;45(3):226-233. Epub 2017 Nov 28 doi: 10.1111/1440-1681.12877. PMID: 29047147
Juvenile myoclonic epilepsy starting in the eighth decade.
Tóth V, Rásonyi G, Fogarasi A, Kovács N, Auer T, Janszky J
Epileptic Disord 2007 Sep;9(3):341-5. Epub 2007 Sep 20 doi: 10.1684/epd.2007.0124. PMID: 17884761
Sudden unexplained death in epilepsy (SUDEP) following previous seizure-related pulmonary oedema: case report and review of possible preventative treatment.
Swallow RA, Hillier CE, Smith PE
Seizure 2002 Oct;11(7):446-8. doi: 10.1053/seiz.2002.0683. PMID: 12237072

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
Why do seizures in generalized epilepsy often occur in the morning?
Badawy RA, Macdonell RA, Jackson GD, Berkovic SF
Neurology 2009 Jul 21;73(3):218-22. doi: 10.1212/WNL.0b013e3181ae7ca6. PMID: 19620610
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.
Heron SE, Khosravani H, Varela D, Bladen C, Williams TC, Newman MR, Scheffer IE, Berkovic SF, Mulley JC, Zamponi GW
Ann Neurol 2007 Dec;62(6):560-8. doi: 10.1002/ana.21169. PMID: 17696120
Clinical and electroencephalographic study of first-degree relatives and probands with juvenile myoclonic epilepsy.
Jayalakshmi SS, Mohandas S, Sailaja S, Borgohain R
Seizure 2006 Apr;15(3):177-83. Epub 2006 Feb 21 doi: 10.1016/j.seizure.2005.12.011. PMID: 16495091
Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14.
Taske NL, Williamson MP, Makoff A, Bate L, Curtis D, Kerr M, Kjeldsen MJ, Pang KA, Sundqvist A, Friis ML, Chadwick D, Richens A, Covanis A, Santos M, Arzimanoglou A, Panayiotopoulos CP, Whitehouse WP, Rees M, Gardiner RM
Epilepsy Res 2002 Apr;49(2):157-72. doi: 10.1016/s0920-1211(02)00027-x. PMID: 12049804

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
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
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
BRD2 and TAP-1 genes and juvenile myoclonic epilepsy.
Layouni S, Buresi C, Thomas P, Malafosse A, Dogui M
Neurol Sci 2010 Feb;31(1):53-6. Epub 2009 Dec 2 doi: 10.1007/s10072-009-0190-z. PMID: 19953286
Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families.
Bai D, Alonso ME, Medina MT, Bailey JN, Morita R, Cordova S, Rasmussen A, Ramos-Peek J, Ochoa A, Jara A, Donnadieu FR, Cadena G, Yamakawa K, Delgado-Escueta AV
Am J Med Genet 2002 Dec 1;113(3):268-74. doi: 10.1002/ajmg.10724. PMID: 12439895
The phenotypic spectrum related to the human epilepsy susceptibility gene "EJM1".
Sander T, Hildmann T, Janz D, Wienker TF, Neitzel H, Bianchi A, Bauer G, Sailer U, Berek K, Schmitz B
Ann Neurol 1995 Aug;38(2):210-7. doi: 10.1002/ana.410380213. PMID: 7654068

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