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Mutations in EFHC1 cause juvenile myoclonic epilepsy.
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. Suzuki T, et al. Among authors: morita r. Nat Genet. 2004 Aug;36(8):842-9. doi: 10.1038/ng1393. Epub 2004 Jul 18. Nat Genet. 2004. PMID: 15258581
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. Bai D, et al. Among authors: morita r. Am J Med Genet. 2002 Dec 1;113(3):268-74. doi: 10.1002/ajmg.10724. Am J Med Genet. 2002. PMID: 12439895
Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy.
Suzuki T, Delgado-Escueta AV, Alonso ME, Morita R, Okamura N, Sugimoto Y, Bai D, Medina MT, Bailey JN, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Ochoa A, Jara-Prado A, Inazawa J, Yamakawa K. Suzuki T, et al. Among authors: morita r. Neurosci Lett. 2006 Sep 11;405(1-2):126-31. doi: 10.1016/j.neulet.2006.06.038. Epub 2006 Jul 28. Neurosci Lett. 2006. PMID: 16876319
Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5.
Suzuki T, Morita R, Sugimoto Y, Sugawara T, Bai DS, Alonso ME, Medina MT, Bailey JN, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Ochoa A, Jara-Prado A, Inazawa J, Delgado-Escueta AV, Yamakawa K. Suzuki T, et al. Among authors: morita r. Epilepsy Res. 2002 Aug;50(3):265-75. doi: 10.1016/s0920-1211(02)00052-9. Epilepsy Res. 2002. PMID: 12200217
Recent developments in the quest for myoclonic epilepsy genes.
Delgado-Escueta AV, Perez-Gosiengfiao KB, Bai D, Bailey J, Medina MT, Morita R, Suzuki T, Ganesh S, Sugimoto T, Yamakawa K, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Alonso ME. Delgado-Escueta AV, et al. Among authors: morita r. Epilepsia. 2003;44 Suppl 11:13-26. doi: 10.1046/j.1528-1157.44.s11.2.x. Epilepsia. 2003. PMID: 14641567 Free article. Review.
929 results