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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

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVIdiopathic generalized epilepsy
- CROGVAbsence seizure
- CROGVJuvenile myoclonic epilepsy
  - CROGVEpilepsy, idiopathic generalized, susceptibility to, 7
  - CROGVEpilepsy, idiopathic generalized, susceptibility to, 9
  - CROGVEpilepsy, idiopathic generalized, susceptibility to, 11
  - CROGVEpilepsy, idiopathic generalized, susceptibility to, 13
  - CROGVEpilepsy, juvenile myoclonic 7
  - CROGVEpilepsy, juvenile myoclonic, susceptibility to, 6
  - CROGVEPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
  - CROGVMyoclonic epilepsy, juvenile, susceptibility to, 1
  - CROGVMyoclonic epilepsy, juvenile, susceptibility to, 3
  - CROGVMyoclonic epilepsy, juvenile, susceptibility to, 4

Disorder by Site
- Disorder of nervous system
  - Disorder of the central nervous system
    - Brain disorder
      - Epilepsy
        Juvenile myoclonic epilepsy
        Myoclonic epilepsy, juvenile, susceptibility to, 3

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: 37225432 Free 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

DNA methylation of the BRD2 promoter is associated with juvenile myoclonic epilepsy in Caucasians.

Pathak S, Miller J, Morris EC, Stewart WCL, Greenberg DA
Epilepsia 2018 May;59(5):1011-1019. Epub 2018 Apr 2 doi: 10.1111/epi.14058. PMID: 29608786 Free PMC Article

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

See all (26)

Diagnosis

Structural insights of novel mutational frames in Bromodomain Containing-2 gene (BRD2) in juvenile myoclonic epilepsy: bed, bench, and laptop profiles.

Kothapalli J, Prasad Uppu V, Munikumar M, Kshirsagar SV, Afshan Jabeen S, Sivanarayana G
Epilepsy Behav 2023 Jul;144:109282. Epub 2023 Jun 3 doi: 10.1016/j.yebeh.2023.109282. PMID: 37276801

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: 37225432 Free 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

See all (11)

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: 37225432 Free 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

See all (5)

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: 37225432 Free 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

See all (7)

Clinical prediction guides

Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.

Talarico M, Fortunato F, Labalme A, Januel L, Chatron N, Sanlaville D, Sammarra I, Gagliardi M, Procopio R, Valentino P, Annesi G, Lesca G, Gambardella A
Epilepsia Open 2024 Jun;9(3):951-959. Epub 2024 Mar 27 doi: 10.1002/epi4.12920. PMID: 38544349 Free PMC Article

Structural insights of novel mutational frames in Bromodomain Containing-2 gene (BRD2) in juvenile myoclonic epilepsy: bed, bench, and laptop profiles.

Kothapalli J, Prasad Uppu V, Munikumar M, Kshirsagar SV, Afshan Jabeen S, Sivanarayana G
Epilepsy Behav 2023 Jul;144:109282. Epub 2023 Jun 3 doi: 10.1016/j.yebeh.2023.109282. PMID: 37276801

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: 37225432 Free PMC Article

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

See all (21)

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

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Genetic Testing Registry

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