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[Genetic diagnosis for epilepsy].
Sugawara T, Kaneko S. Sugawara T, et al. Among authors: kaneko s. Nihon Rinsho. 2014 May;72(5):834-8. Nihon Rinsho. 2014. PMID: 24912283 Review. Japanese.
Phenotypes and genotypes in epilepsy with febrile seizures plus.
Ito M, Yamakawa K, Sugawara T, Hirose S, Fukuma G, Kaneko S. Ito M, et al. Among authors: kaneko s. Epilepsy Res. 2006 Aug;70 Suppl 1:S199-205. doi: 10.1016/j.eplepsyres.2005.11.028. Epub 2006 Aug 1. Epilepsy Res. 2006. PMID: 16884893
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
A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.
Sugawara T, Tsurubuchi Y, Agarwala KL, Ito M, Fukuma G, Mazaki-Miyazaki E, Nagafuji H, Noda M, Imoto K, Wada K, Mitsudome A, Kaneko S, Montal M, Nagata K, Hirose S, Yamakawa K. Sugawara T, et al. Among authors: kaneko s. Proc Natl Acad Sci U S A. 2001 May 22;98(11):6384-9. doi: 10.1073/pnas.111065098. Proc Natl Acad Sci U S A. 2001. PMID: 11371648 Free PMC article.
3,539 results