| Species |
Homo sapiens |
| Alternate Name(s) |
FLJ10466 |
| Epilepsy-Associated Disorder(s) |
juvenile myoclonic epilepsy |
| Description |
EF-hand domain (C-terminal) containing 1
|
| Chromosome |
6
|
| Locus |
6p12.3 |
| Reference(s) |
,
Annesi F, Gambardella A, Michelucci R, Bianchi A, Marini C, Canevini MP, Capovilla G, Elia M, Buti D, Chifari R, Striano P, Rocca FE, Castellotti B, Cali F, Labate A, Lepiane E, Besana D, Sofia V, Tabiadon G, Tortorella G, Vigliano P, Vignoli A, Beccaria F, Annesi G, Striano S, Aguglia U, Guerrini R, Quattrone A. Mutational Analysis of EFHC1 Gene in Italian Families with Juvenile Myoclonic Epilepsy. Epilepsia. 2007 Jul 18; [Epub ahead of print]
Ikeda T, Ikeda K, Enomoto M, Park MK, Hirono M, Kamiya R. The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella. FEBS Lett. 2005 Jan 31;579(3):819-22.
Kamp MA, Krieger A, Henry M, Hescheler J, Weiergraber M, Schneider T. Presynaptic 'Ca2.3-containing' E-type Ca channels share dual roles during neurotransmitter release. Eur J Neurosci. 2005 Mar;21(6):1617-25.
Ma S, Blair MA, Abou-Khalil B, Lagrange AH, Gurnett CA, Hedera P. Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. Epilepsy Res. 2006 Jul 11; [Epub ahead of print].
Medina MT, Suzuki T, Alonso ME, Durón RM, Martínez-Juárez IE, Bailey JN, Bai D, Inoue Y, Yoshimura I, Kaneko S, Montoya MC, Ochoa A, Prado AJ, Tanaka M, Machado-Salas J, Fujimoto S, Ito M, Hamano S, Sugita K, Ueda Y, Osawa M, Oguni H, Rubio-Donnadieu F, Yamakawa K, Delgado-Escueta AV. Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. Neurology. 2008 May 27;70(22 Pt 2):2137-44.
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. 2004 Aug;36(8):842-9. Epub 2004 Jul 18.
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