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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: bai d. Epilepsia. 2003;44 Suppl 11:13-26. doi: 10.1046/j.1528-1157.44.s11.2.x. Epilepsia. 2003. PMID: 14641567 Free article. Review.
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. Am J Med Genet. 2002 Dec 1;113(3):268-74. doi: 10.1002/ajmg.10724. Am J Med Genet. 2002. PMID: 12439895
DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.
Bai D, Bailey JN, Durón RM, Alonso ME, Medina MT, Martínez-Juárez IE, Suzuki T, Machado-Salas J, Ramos-Ramírez R, Tanaka M, Ortega RH, López-Ruiz M, Rasmussen A, Ochoa A, Jara-Prado A, Yamakawa K, Delgado-Escueta AV. Bai D, et al. Epilepsia. 2009 May;50(5):1184-90. doi: 10.1111/j.1528-1167.2008.01762.x. Epilepsia. 2009. PMID: 18823326 Free PMC article.
Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.
Bailey JN, de Nijs L, Bai D, Suzuki T, Miyamoto H, Tanaka M, Patterson C, Lin YC, Medina MT, Alonso ME, Serratosa JM, Durón RM, Nguyen VH, Wight JE, Martínez-Juárez IE, Ochoa A, Jara-Prado A, Guilhoto L, Molina Y, Yacubian EM, López-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. Bailey JN, et al. Among authors: bai d. N Engl J Med. 2018 Mar 15;378(11):1018-1028. doi: 10.1056/NEJMoa1700175. N Engl J Med. 2018. PMID: 29539279 Free article.
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: bai d. Nat Genet. 2004 Aug;36(8):842-9. doi: 10.1038/ng1393. Epub 2004 Jul 18. Nat Genet. 2004. PMID: 15258581
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: bai d. 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
Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5-6.0 Hz polyspike waves.
Wight JE, Nguyen VH, Medina MT, Patterson C, Durón RM, Molina Y, Lin YC, Martínez-Juárez IE, Ochoa A, Jara-Prado A, Tanaka M, Bai D, Aftab S, Bailey JN, Delgado-Escueta AV. Wight JE, et al. Among authors: bai d. Mol Genet Genomic Med. 2016 Jan 23;4(2):197-210. doi: 10.1002/mgg3.195. eCollection 2016 Mar. Mol Genet Genomic Med. 2016. PMID: 27066514 Free PMC article.
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. Epilepsy Res. 2002 Aug;50(3):265-75. doi: 10.1016/s0920-1211(02)00052-9. Epilepsy Res. 2002. PMID: 12200217
1,313 results