Yamakawa K - 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: yamakawa k. Epilepsy Res. 2002 Jan;48(1-2):15-23. doi: 10.1016/s0920-1211(01)00313-8. Epilepsy Res. 2002. PMID: 11823106

2

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: yamakawa k. 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.

3

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: yamakawa k. Neurology. 2001 Aug 28;57(4):703-5. doi: 10.1212/wnl.57.4.703. Neurology. 2001. PMID: 11524484

4

Phenotypes and genotypes in epilepsy with febrile seizures plus.

Ito M, Yamakawa K, Sugawara T, Hirose S, Fukuma G, Kaneko S. Ito M, et al. Among authors: yamakawa k. Epilepsy Res. 2006 Aug;70 Suppl 1:S199-205. doi: 10.1016/j.eplepsyres.2005.11.028. Epub 2006 Aug 1. Epilepsy Res. 2006. PMID: 16884893

5

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: yamakawa k. Neurology. 2002 Apr 9;58(7):1122-4. doi: 10.1212/wnl.58.7.1122. Neurology. 2002. PMID: 11940708

6

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.

Medina MT, Suzuki T, Alonso ME, Durón RM, Martínez-Juárez IE, Bailey JN, Bai D, Inoue Y, Yoshimura I, Kaneko S, Montoya MC, Ochoa A, Prado AJ, Tanaka M, Machado-Salas J, Fujimoto S, Ito M, Hamano S, Sugita K, Ueda Y, Osawa M, Oguni H, Rubio-Donnadieu F, Yamakawa K, Delgado-Escueta AV. Medina MT, et al. Among authors: yamakawa k. Neurology. 2008 May 27;70(22 Pt 2):2137-44. doi: 10.1212/01.wnl.0000313149.73035.99. Neurology. 2008. PMID: 18505993

7

[Na channel gene mutations and epilepsy mouse model].

Yamakawa K. Yamakawa K. No To Hattatsu. 2007 May;39(3):171-3. No To Hattatsu. 2007. PMID: 17515128 Japanese. No abstract available.

8

T-STAR gene: fine mapping in the candidate region for childhood absence epilepsy on 8q24 and mutational analysis in patients.

Sugimoto Y, Morita R, Amano K, Shah PU, Pascual-Castroviejo I, Khan S, Delgado-Escueta AV, Yamakawa K. Sugimoto Y, et al. Among authors: yamakawa k. Epilepsy Res. 2001 Aug;46(2):139-44. doi: 10.1016/s0920-1211(01)00274-1. Epilepsy Res. 2001. PMID: 11463515

9

Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24.

Morita R, Miyazaki E, Shah PU, Castroviejo IP, Delgado-Escueta AV, Yamakawa K. Morita R, et al. Among authors: yamakawa k. Epilepsy Res. 1999 Nov;37(2):151-8. doi: 10.1016/s0920-1211(99)00061-3. Epilepsy Res. 1999. PMID: 10510981 Clinical Trial.

10

Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene.

Ganesh S, Shoda K, Amano K, Uchiyama A, Kumada S, Moriyama N, Hirose S, Yamakawa K. Ganesh S, et al. Among authors: yamakawa k. Mol Cell Probes. 2001 Oct;15(5):281-9. doi: 10.1006/mcpr.2001.0371. Mol Cell Probes. 2001. PMID: 11735300

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