8 results for author:"Mazaki-Miyazaki E." in Literature citations
Results Customize
› Repeat search in UniProtKB (2)
| A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. Kimura K., Sugawara T., Mazaki-Miyazaki E., Hoshino K., Nomura Y., Tateno A., Hachimori K., Yamakawa K., Segawa M. Brain Dev. 27:424-430(2005) · UniProtKB (2) |
| A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures. Nagao Y., Mazaki-Miyazaki E., Okamura N., Takagi M., Igarashi T., Yamakawa K. |
| Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents. Sugawara T., Tsurubuchi Y., Fujiwara T., Mazaki-Miyazaki E., Nagata K., Montal M., Inoue Y., Yamakawa K. Epilepsy Res. 54:201-207(2003) · Mapped (7) |
| Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Fujiwara T., Sugawara T., Mazaki-Miyazaki E., Takahashi Y., Fukushima K., Watanabe M., Hara K., Morikawa T., Yagi K., Yamakawa K. et al. Brain 126:531-546(2003) · UniProtKB (1) |
| Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Sugawara T., Mazaki-Miyazaki E., Fukushima K., Shimomura J., Fujiwara T., Hamano S., Inoue Y., Yamakawa K. Neurology 58:1122-1124(2002) · Mapped (7) |
| Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. Ito M., Nagafuji H., Okazawa H., Yamakawa K., Sugawara T., Mazaki-Miyazaki E., Hirose S., Fukuma G., Mitsudome A., Wada K. et al. Epilepsy Res. 48:15-23(2002) · Mapped (6) |
| Na(v)1.1 mutations cause febrile seizures associated with afebrile partial seizures. Sugawara T., Mazaki-Miyazaki E., Ito M., Nagafuji H., Fukuma G., Mitsudome A., Wada K., Kaneko S., Hirose S., Yamakawa K. Neurology 57:703-705(2001) · UniProtKB (1) |
| 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 K.L., Ito M., Fukuma G., Mazaki-Miyazaki E., Nagafuji H., Noda M., Imoto K., Wada K. et al. Proc. Natl. Acad. Sci. U.S.A. 98:6384-6389(2001) · UniProtKB (1) |