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Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.
Ganesh S, Delgado-Escueta AV, Suzuki T, Francheschetti S, Riggio C, Avanzini G, Rabinowicz A, Bohlega S, Bailey J, Alonso ME, Rasmussen A, Thomson AE, Ochoa A, Prado AJ, Medina MT, Yamakawa K. Ganesh S, et al. Among authors: bailey j. Hum Mol Genet. 2002 May 15;11(11):1263-71. doi: 10.1093/hmg/11.11.1263. Hum Mol Genet. 2002. PMID: 12019207
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: bailey jn. Nat Genet. 2004 Aug;36(8):842-9. doi: 10.1038/ng1393. Epub 2004 Jul 18. Nat Genet. 2004. PMID: 15258581
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: bailey jn. Epilepsy Res. 2002 Aug;50(3):265-75. doi: 10.1016/s0920-1211(02)00052-9. Epilepsy Res. 2002. PMID: 12200217
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: bailey jn. 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
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, Duron RM, Castro-Ortega R, Martinez-Juarez IE, Pascual-Castroviejo I, Machado-Salas J, Silva R, Bailey JN, Bai D, Ochoa A, Jara-Prado A, Pineda G, Macdonald RL, Delgado-Escueta AV. Tanaka M, et al. Among authors: bailey jn. Am J Hum Genet. 2008 Jun;82(6):1249-61. doi: 10.1016/j.ajhg.2008.04.020. Am J Hum Genet. 2008. PMID: 18514161 Free PMC article.
Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.
Jara-Prado A, Martínez-Juárez IE, Ochoa A, González VM, Fernández-González-Aragón Mdel C, López-Ruiz M, Medina MT, Bailey JN, Delgado-Escueta AV, Alonso ME. Jara-Prado A, et al. Seizure. 2012 Sep;21(7):550-4. doi: 10.1016/j.seizure.2012.05.016. Epub 2012 Jun 22. Seizure. 2012. PMID: 22727576 Free article.
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: bailey jn. Am J Med Genet. 2002 Dec 1;113(3):268-74. doi: 10.1002/ajmg.10724. Am J Med Genet. 2002. PMID: 12439895
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.
Bailey JN, Patterson C, de Nijs L, Durón RM, Nguyen VH, Tanaka M, Medina MT, Jara-Prado A, Martínez-Juárez IE, Ochoa A, Molina Y, Suzuki T, Alonso ME, Wight JE, Lin YC, Guilhoto L, Targas Yacubian EM, Machado-Salas J, Daga A, Yamakawa K, Grisar TM, Lakaye B, Delgado-Escueta AV. Bailey JN, et al. Genet Med. 2017 Feb;19(2):144-156. doi: 10.1038/gim.2016.86. Epub 2016 Jul 28. Genet Med. 2017. PMID: 27467453 Free article.
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: bailey j. 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 in chromosome 6p12: clinical and genetic advances].
Delgado-Escueta AV, Bai D, Bailey J, Medina MT, Alonso ME, Morita R, Suzuki T, Ganesh S, Sugimoto T, Yamakawa K, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek M, Cordova S, Rubio-Donnadieu F. Delgado-Escueta AV, et al. Among authors: bailey j. Rev Neurol. 2002 Jul 1-15;35(1):82-6. Rev Neurol. 2002. PMID: 12389199 Free article. Spanish.
4,276 results