Mazaki-Miyazaki E - Search Results

1

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, Kaneko S. Ito M, et al. Among authors: mazaki miyazaki e. Epilepsy Res. 2002 Jan;48(1-2):15-23. doi: 10.1016/s0920-1211(01)00313-8. Epilepsy Res. 2002. PMID: 11823106

2

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. Sugawara T, et al. Among authors: mazaki miyazaki e. Epilepsy Res. 2003 May;54(2-3):201-7. doi: 10.1016/s0920-1211(03)00084-6. Epilepsy Res. 2003. PMID: 12837571

3

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. Nagao Y, et al. Among authors: mazaki miyazaki e. Epilepsy Res. 2005 Feb;63(2-3):151-6. doi: 10.1016/j.eplepsyres.2004.11.005. Epilepsy Res. 2005. PMID: 15715999

4

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: mazaki miyazaki e. 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.

5

Nav1.1 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. Sugawara T, et al. Among authors: mazaki miyazaki e. Neurology. 2001 Aug 28;57(4):703-5. doi: 10.1212/wnl.57.4.703. Neurology. 2001. PMID: 11524484

6

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, Inoue Y. Fujiwara T, et al. Among authors: mazaki miyazaki e. Brain. 2003 Mar;126(Pt 3):531-46. doi: 10.1093/brain/awg053. Brain. 2003. PMID: 12566275

7

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. Kimura K, et al. Among authors: mazaki miyazaki e. Brain Dev. 2005 Sep;27(6):424-30. doi: 10.1016/j.braindev.2004.11.005. Epub 2005 Jan 12. Brain Dev. 2005. PMID: 16122630

8

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. Sugawara T, et al. Among authors: mazaki miyazaki e. Neurology. 2002 Apr 9;58(7):1122-4. doi: 10.1212/wnl.58.7.1122. Neurology. 2002. PMID: 11940708

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