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Page 1
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. Among authors: duron rm. 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.
Childhood absence epilepsy evolving to juvenile myoclonic epilepsy: electroclinical and genetic features.
Medina MT, Durón RM, Alonso ME, Dravet C, León L, López-Ruiz M, Ramos-Ramírez R, Castroviejo IP, Weissbecker K, Westling B, Perez-Gosiengfiao KT, Khan S, Pineda G, Morita R, Rasmussen A, Peek JR, Cordova S, Martínez-Juárez IE, Rubio-Donnadieu F, Ochoa-Morales A, Jara-Prado A, Bailey JN, Tanaka M, Bai D, Machado-Salas J, Delgado-Escueta AV. Medina MT, et al. Among authors: duron rm. Adv Neurol. 2005;95:197-215. Adv Neurol. 2005. PMID: 15508924 No abstract available.
Familial juvenile myoclonic epilepsy.
Alonso ME, Medina MT, Martínez-Juárez IE, Durón RM, Bailey JN, López-Ruiz M, Ramos-Ramírez R, Ochoa-Morales A, Jara-Prado A, Rasmussen-Almarez A, León L, Pineda G, Castroviejo IP, Khan S, Silva R, Mija L, Portilla L, Bai D, Perez-Gosiengfiao KT, Machado-Salas J, Delgado-Escueta AV. Alonso ME, et al. Among authors: duron rm. Adv Neurol. 2005;95:227-43. Adv Neurol. 2005. PMID: 15508926 No abstract available.
Treatment of myoclonic epilepsies of childhood, adolescence, and adulthood.
Medina MT, Martínez-Juárez IE, Durón RM, Genton P, Guerrini R, Dravet C, Bureau M, Perez-Gosiengfiao KT, Amador C, Bailey JN, Chaves-Sell F, Delgado-Escueta AV. Medina MT, et al. Among authors: duron rm. Adv Neurol. 2005;95:307-23. Adv Neurol. 2005. PMID: 15508934 Clinical Trial. No abstract available.
Seizures of idiopathic generalized epilepsies.
Durón RM, Medina MT, Martínez-Juárez IE, Bailey JN, Perez-Gosiengfiao KT, Ramos-Ramírez R, López-Ruiz M, Alonso ME, Ortega RH, Pascual-Castroviejo I, Machado-Salas J, Mija L, Delgado-Escueta AV. Durón RM, et al. Epilepsia. 2005;46 Suppl 9:34-47. doi: 10.1111/j.1528-1167.2005.00312.x. Epilepsia. 2005. PMID: 16302874 Free article. Review.
Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up.
Martínez-Juárez IE, Alonso ME, Medina MT, Durón RM, Bailey JN, López-Ruiz M, Ramos-Ramírez R, León L, Pineda G, Castroviejo IP, Silva R, Mija L, Perez-Gosiengfiao K, Machado-Salas J, Delgado-Escueta AV. Martínez-Juárez IE, et al. Among authors: duron rm. Brain. 2006 May;129(Pt 5):1269-80. doi: 10.1093/brain/awl048. Epub 2006 Mar 6. Brain. 2006. PMID: 16520331
Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.
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. Medina MT, et al. Among authors: duron rm. Neurology. 2008 May 27;70(22 Pt 2):2137-44. doi: 10.1212/01.wnl.0000313149.73035.99. Neurology. 2008. PMID: 18505993
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: duron rm. 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.
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. Among authors: duron rm. Epilepsia. 2009 May;50(5):1184-90. doi: 10.1111/j.1528-1167.2008.01762.x. Epilepsia. 2009. PMID: 18823326 Free PMC article.
37 results