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Items: 14

1.

Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.

Kanai K, Yoshida S, Hirose S, Oguni H, Kuwabara S, Sawai S, Hiraga A, Fukuma G, Iwasa H, Kojima T, Kaneko S.

J Med Genet. 2009 Oct;46(10):671-9. doi: 10.1136/jmg.2008.060897. Epub 2009 Jul 7.

PMID:
19586930
2.

Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype.

Zhu G, Okada M, Yoshida S, Ueno S, Mori F, Takahara T, Saito R, Miura Y, Kishi A, Tomiyama M, Sato A, Kojima T, Fukuma G, Wakabayashi K, Hase K, Ohno H, Kijima H, Takano Y, Mitsudome A, Kaneko S, Hirose S.

J Neurosci. 2008 Nov 19;28(47):12465-76. doi: 10.1523/JNEUROSCI.2961-08.2008.

3.

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.

Brain Dev. 2009 Jan;31(1):27-33. doi: 10.1016/j.braindev.2008.05.010. Epub 2008 Jul 21.

PMID:
18640800
4.

Phenotypes and genotypes in epilepsy with febrile seizures plus.

Ito M, Yamakawa K, Sugawara T, Hirose S, Fukuma G, Kaneko S.

Epilepsy Res. 2006 Aug;70 Suppl 1:S199-205. Epub 2006 Aug 1.

PMID:
16884893
5.

Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort.

Oguni H, Hayashi K, Osawa M, Awaya Y, Fukuyama Y, Fukuma G, Hirose S, Mitsudome A, Kaneko S.

Adv Neurol. 2005;95:103-17. Review. No abstract available.

PMID:
15508916
6.

Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.

Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, Wada K, Iwasa H, Yasumoto S, Matsuo M, Ito M, Mitsudome A, Kaneko S.

Neurology. 2004 Jul 27;63(2):329-34. Review.

PMID:
15277629
7.

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.

Epilepsia. 2004 Feb;45(2):140-8.

8.

Genetic abnormalities underlying familial epilepsy syndromes.

Hirose S, Okada M, Yamakawa K, Sugawara T, Fukuma G, Ito M, Kaneko S, Mitsudome A.

Brain Dev. 2002 Jun;24(4):211-22. Review.

PMID:
12015163
9.

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.

Epilepsy Res. 2002 Feb;48(3):181-6.

PMID:
11904236
10.

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.

Epilepsy Res. 2002 Jan;48(1-2):15-23.

PMID:
11823106
11.

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.

Neurology. 2001 Aug 28;57(4):703-5.

PMID:
11524484
12.

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.

Proc Natl Acad Sci U S A. 2001 May 22;98(11):6384-9. Erratum in: Proc Natl Acad Sci U S A 2001 Aug 28;98(18):10515.

13.

A novel SSCP variant (c.828G>A) within the M2 domain of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit gene, CHRNA4.

Akiyoshi H, Iwata H, Fukuma G, Yonetani M, Wada K, Kaneko S, Mitsudome A, Hirose S.

Hum Mutat. 2000 Nov;16(5):450. No abstract available.

PMID:
11058920
14.

A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions.

Hirose S, Zenri F, Akiyoshi H, Fukuma G, Iwata H, Inoue T, Yonetani M, Tsutsumi M, Muranaka H, Kurokawa T, Hanai T, Wada K, Kaneko S, Mitsudome A.

Ann Neurol. 2000 Jun;47(6):822-6.

PMID:
10852552

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