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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. Epilepsia. 2004 Feb;45(2):140-8. doi: 10.1111/j.0013-9580.2004.15103.x. Epilepsia. 2004. PMID: 14738421 Free article.
Genetic abnormalities underlying familial epilepsy syndromes.
Hirose S, Okada M, Yamakawa K, Sugawara T, Fukuma G, Ito M, Kaneko S, Mitsudome A. Hirose S, et al. Among authors: fukuma g. Brain Dev. 2002 Jun;24(4):211-22. doi: 10.1016/s0387-7604(02)00056-6. Brain Dev. 2002. PMID: 12015163 Review.
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: fukuma g. 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
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: fukuma g. 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.
14 results