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PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.
Higurashi N, Nakamura M, Sugai M, Ohfu M, Sakauchi M, Sugawara Y, Nakamura K, Kato M, Usui D, Mogami Y, Fujiwara Y, Ito T, Ikeda H, Imai K, Takahashi Y, Nukui M, Inoue T, Okazaki S, Kirino T, Tomonoh Y, Inoue T, Takano K, Shimakawa S, Hirose S. Higurashi N, et al. Among authors: hirose s. Epilepsy Res. 2013 Sep;106(1-2):191-9. doi: 10.1016/j.eplepsyres.2013.04.005. Epub 2013 May 24. Epilepsy Res. 2013. PMID: 23712037
Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes.
Matsushima N, Hirose S, Iwata H, Fukuma G, Yonetani M, Nagayama C, Hamanaka W, Matsunaka Y, Ito M, Kaneko S, Mitsudome A, Sugiyama H. Matsushima N, et al. Among authors: hirose s. Epilepsy Res. 2002 Feb;48(3):181-6. doi: 10.1016/s0920-1211(01)00336-9. Epilepsy Res. 2002. PMID: 11904236
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: hirose s. Epilepsia. 2004 Feb;45(2):140-8. doi: 10.1111/j.0013-9580.2004.15103.x. Epilepsia. 2004. PMID: 14738421 Free article.
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: hirose 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.
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: hirose 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
2,090 results