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3,602 results

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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: kaneko s. Nat Genet. 2004 Aug;36(8):842-9. doi: 10.1038/ng1393. Epub 2004 Jul 18. Nat Genet. 2004. PMID: 15258581
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: kaneko s. N Engl J Med. 2018 Mar 15;378(11):1018-1028. doi: 10.1056/NEJMoa1700175. N Engl J Med. 2018. PMID: 29539279 Free article.
CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate.
Suzuki T, Tatsukawa T, Sudo G, Delandre C, Pai YJ, Miyamoto H, Raveau M, Shimohata A, Ohmori I, Hamano SI, Haginoya K, Uematsu M, Takahashi Y, Morimoto M, Fujimoto S, Osaka H, Oguni H, Osawa M, Ishii A, Hirose S, Kaneko S, Inoue Y, Moore AW, Yamakawa K. Suzuki T, et al. Among authors: kaneko s. Sci Rep. 2022 May 17;12(1):6505. doi: 10.1038/s41598-022-10715-w. Sci Rep. 2022. PMID: 35581205 Free PMC article.
Genetics of epilepsy: current status and perspectives.
Kaneko S, Okada M, Iwasa H, Yamakawa K, Hirose S. Kaneko S, et al. Neurosci Res. 2002 Sep;44(1):11-30. doi: 10.1016/s0168-0102(02)00065-2. Neurosci Res. 2002. PMID: 12204289 Review.
Mutation screening of AP3M2 in Japanese epilepsy patients.
Huang MC, Okada M, Nakatsu F, Oguni H, Ito M, Morita K, Nagafuji H, Hirose S, Sakaki Y, Kaneko S, Ohno H, Kojima T. Huang MC, et al. Among authors: kaneko s. Brain Dev. 2007 Sep;29(8):462-7. doi: 10.1016/j.braindev.2006.12.004. Epub 2007 Feb 12. Brain Dev. 2007. PMID: 17293072
Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
Osaka H, Ogiwara I, Mazaki E, Okamura N, Yamashita S, Iai M, Yamada M, Kurosawa K, Iwamoto H, Yasui-Furukori N, Kaneko S, Fujiwara T, Inoue Y, Yamakawa K. Osaka H, et al. Among authors: kaneko s. Epilepsy Res. 2007 Jun;75(1):46-51. doi: 10.1016/j.eplepsyres.2007.03.018. Epub 2007 May 15. Epilepsy Res. 2007. PMID: 17507202
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: kaneko s. Neurology. 2008 May 27;70(22 Pt 2):2137-44. doi: 10.1212/01.wnl.0000313149.73035.99. Neurology. 2008. PMID: 18505993
Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.
Tomioka NH, Yasuda H, Miyamoto H, Hatayama M, Morimura N, Matsumoto Y, Suzuki T, Odagawa M, Odaka YS, Iwayama Y, Won Um J, Ko J, Inoue Y, Kaneko S, Hirose S, Yamada K, Yoshikawa T, Yamakawa K, Aruga J. Tomioka NH, et al. Among authors: kaneko s. Nat Commun. 2014 Jul 22;5:4501. doi: 10.1038/ncomms5501. Nat Commun. 2014. PMID: 25047565 Free article.
3,602 results