特発性全般てんかん [DS:H00808]

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

Juvenile myoclonic epilepsy: A system disorder of the brain.

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

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

Mutations in EFHC1 cause juvenile myoclonic epilepsy.

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

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

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

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

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

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

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