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Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.
Ishii A, Yasumoto S, Ihara Y, Inoue T, Fujita T, Nakamura N, Ohfu M, Yamashita Y, Takatsuka H, Taga T, Miyata R, Ito M, Tsuchiya H, Matsuoka T, Kitao T, Murakami K, Lee WT, Kaneko S, Hirose S. Ishii A, et al. Among authors: kaneko s. Brain Dev. 2013 Jun;35(6):524-30. doi: 10.1016/j.braindev.2012.09.006. Epub 2012 Oct 13. Brain Dev. 2013. PMID: 23073245
A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.
Ishii A, Fukuma G, Uehara A, Miyajima T, Makita Y, Hamachi A, Yasukochi M, Inoue T, Yasumoto S, Okada M, Kaneko S, Mitsudome A, Hirose S. Ishii A, et al. Among authors: kaneko s. Brain Dev. 2009 Jan;31(1):27-33. doi: 10.1016/j.braindev.2008.05.010. Epub 2008 Jul 21. Brain Dev. 2009. PMID: 18640800
Molecular genetics of human familial epilepsy syndromes.
Hirose S, Okada M, Kaneko S, Mitsudome A. Hirose S, et al. Among authors: kaneko s. Epilepsia. 2002;43 Suppl 9:21-5. doi: 10.1046/j.1528-1157.43.s.9.6.x. Epilepsia. 2002. PMID: 12383275 Free article.
Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).
Fukuma G, Oguni H, Shirasaka Y, Watanabe K, Miyajima T, Yasumoto S, Ohfu M, Inoue T, Watanachai A, Kira R, Matsuo M, Muranaka H, Sofue F, Zhang B, Kaneko S, Mitsudome A, Hirose S. Fukuma G, et al. Among authors: kaneko s. Epilepsia. 2004 Feb;45(2):140-8. doi: 10.1111/j.0013-9580.2004.15103.x. Epilepsia. 2004. PMID: 14738421 Free article.
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
Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy.
Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, Ogawa A, Yasumoto S, Oguni H, Kure S, Fujii T, Ito M, Okuno T, Shirasaka Y, Natsume J, Hasegawa A, Konagaya A, Kaneko S, Hirose S. Wang JW, et al. Among authors: kaneko s. Epilepsia. 2008 Sep;49(9):1528-34. doi: 10.1111/j.1528-1167.2008.01609.x. Epub 2008 Apr 21. Epilepsia. 2008. PMID: 18479393 Free article.
3,600 results