KEGG DISEASE: Juvenile myoclonic epilepsy

KEGG

DISEASE: Juvenile myoclonic epilepsy

Entry

H02217                      Disease

Name

Juvenile myoclonic epilepsy

Supergrp

Idiopathic generalized epilepsies [DS:H00808]

Description

Juvenile myoclonic epilepsy (JME/EJM) is the most common form of idiopathic generalized epilepsy. JME appears around puberty and is characterized by seizures with bilateral and irregular myoclonic jerks, predominantly in the arms. No disturbance of consciousness is noticeable. Response to appropriate drugs is good.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Epilepsy or seizures
   8A61  Genetic or presumed genetic syndromes primarily expressed as epilepsy
    H02217  Juvenile myoclonic epilepsy

Gene

(EJM1) EFHC1 [HSA:114327] [KO:K23029]
(EJM5) GABRA1 [HSA:2554] [KO:K05175]
(EJM6) CACNB4 [HSA:785] [KO:K04865]
(EJM7) GABRD [HSA:2563] [KO:K05184]
(EJM8) CLCN2 [HSA:1181] [KO:K05011]
(EJM10) ICK [HSA:22858] [KO:K08828]

Other DBs

ICD-11:

MeSH:

OMIM:

254770 611136 607682 613060 607628 617924

Reference

Authors

Wolf P, Yacubian EM, Avanzini G, Sander T, Schmitz B, Wandschneider B, Koepp M

Title

Juvenile myoclonic epilepsy: A system disorder of the brain.

Journal

Epilepsy Res 114:2-12 (2015)
DOI:10.1016/j.eplepsyres.2015.04.008

Reference

Authors

Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K

Title

Mutations in EFHC1 cause juvenile myoclonic epilepsy.

Journal

Nat Genet 36:842-9 (2004)
DOI:10.1038/ng1393

Reference

Authors

Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM, Carmant L, Verner A, Lu WY, Wang YT, Rouleau GA

Title

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.

Journal

Nat Genet 31:184-9 (2002)
DOI:10.1038/ng885

Reference

Authors

Bailey JN, de Nijs L, Bai D, Suzuki T, Miyamoto H, Tanaka M, Patterson C, Lin YC, Medina MT, Alonso ME, Serratosa JM, Duron RM, Nguyen VH, Wight JE, Martinez-Juarez IE, Ochoa A, Jara-Prado A, Guilhoto L, Molina Y, Yacubian EM, Lopez-Ruiz M, Inoue Y, Kaneko S, Hirose S, Osawa M, Oguni H, Fujimoto S, Grisar TM, Stern JM, Yamakawa K, Lakaye B, Delgado-Escueta AV

Title

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

Journal

N Engl J Med 378:1018-1028 (2018)
DOI:10.1056/NEJMoa1700175

LinkDB

» Japanese version

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