Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

33 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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. N Engl J Med. 2018 Mar 15;378(11):1018-1028. doi: 10.1056/NEJMoa1700175. N Engl J Med. 2018. PMID: 29539279 Free 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
[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. Rev Neurol. 2002 Jul 1-15;35(1):82-6. Rev Neurol. 2002. PMID: 12389199 Free article. Spanish.
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. Epilepsia. 2003;44 Suppl 11:13-26. doi: 10.1046/j.1528-1157.44.s11.2.x. Epilepsia. 2003. PMID: 14641567 Free article. Review.
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. Nat Genet. 2004 Aug;36(8):842-9. doi: 10.1038/ng1393. Epub 2004 Jul 18. Nat Genet. 2004. PMID: 15258581
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. 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. Adv Neurol. 2005;95:227-43. Adv Neurol. 2005. PMID: 15508926 No abstract available.
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. 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. 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. Epilepsia. 2009 May;50(5):1184-90. doi: 10.1111/j.1528-1167.2008.01762.x. Epilepsia. 2009. PMID: 18823326 Free PMC article.
33 results