研究業績(2012年)

論文

○Properties of a Novel GABA(A) Receptor γ(2) Subunit Mutation Associated With Seizures.
Migita K, Yamada J, Nikaido Y, Shi X, Kaneko S, Hirose S, Ueno S.
J Pharmacol Sci. 2012 Dec 21.

○Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
Wang JW, Shi XY, Kurahashi H, Hwang SK, Ishii A, Higurashi N, Kaneko S, Hirose S; The Epilepsy Genetic Study Group Japan (Chairperson, SK).
Epilepsy Res. 2012 Dec;102(3):195-200. doi: 10.1016/j.eplepsyres.2012.06.006. Epub 2012 Jul 20.

○Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.
Ishii A, Yasumoto S, Ihara Y, Inoue T, Fujita T, Nakamura N, Ohfu M, Yamashita Y, Takatsuka H, Taga T, Miyata R, Ito M, Tsuchiya H, Matsuoka T, Kitao T, Murakami K, Lee WT, Kaneko S, Hirose S.
Brain Dev. 2012 Oct 13. doi:pii: S0387-7604(12)00228-8. 10.1016/j.braindev.2012.09.006.

○Hyperpolarization-activated cyclic nucleotide gated channels: a potential molecular link between epileptic seizures and Aβ generation in Alzheimer's disease.
Saito Y, Inoue T, Zhu G, Kimura N, Okada M, Nishimura M, Kimura N, Murayama S, Kaneko S, Shigemoto R, Imoto K, Suzuki T.
Mol Neurodegener. 2012 Oct 3;7:50. doi: 10.1186/1750-1326-7-50.

○A case of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) coexisting with pervasive developmental disorder harboring SCN1A mutation in addition to CHRNB2 mutation.
Sone D, Sugawara T, Sakakibara E, Tomioka Y, Taniguchi G, Murata Y, Watanabe M, Kaneko S.
Epilepsy Behav. 2012 Oct;25(2):192-5. doi: 10.1016/j.yebeh.2012.07.027. Epub 2012 Sep 29.

○KCNQ2 abnormality in BECTS: Benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2.
Ishii A, Miyajima T, Kurahashi H, Wang JW, Yasumoto S, Kaneko S, Hirose S.
Epilepsy Res. 2012 Nov;102(1-2):122-5. doi: 10.1016/j.eplepsyres.2012.07.011. Epub 2012 Aug 10.

○Nicotinic acetylcholine receptor mutations.
Steinlein OK, Kaneko S, Hirose S.
Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012.

○[Titration comparative study of TOPINA Tablets in patients with localization related epilepsy: double-blind comparative study by rapid and slow titration methods].
Kaneko S, Inoue Y, Sasagawa M, Kato M.
Nihon Shinkei Seishin Yakurigaku Zasshi. 2012 Apr;32(2):73-83. Japanese.

○Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures.
Ishida S, Sakamoto Y, Nishio T, Baulac S, Kuwamura M, Ohno Y, Takizawa A, Kaneko S, Serikawa T, Mashimo T.
Brain Res. 2012 Jan 30;1435:154-66. doi: 10.1016/j.brainres.2011.11.023. Epub 2011 Nov 13.

○On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation.
Shi X, Wang J, Kurahashi H, Ishii A, Higurashi N, Kaneko S, Hirose S.
Brain Dev. 2012 Sep;34(8):617-9. doi: 10.1016/j.braindev.2011.11.005. Epub 2011 Dec 27.

○Dysfunction of extrasynaptic GABAergic transmission in phospholipase C-related, but catalytically inactive protein 1 knockout mice is associated with an epilepsy phenotype.
Zhu G, Yoshida S, Migita K, Yamada J, Mori F, Tomiyama M, Wakabayashi K, Kanematsu T, Hirata M, Kaneko S, Ueno S, Okada M.
J Pharmacol Exp Ther. 2012 Mar;340(3):520-8. doi: 10.1124/jpet.111.182386. Epub 2011 Nov 29.

○Superoxide dismutase 2 Val16Ala polymorphism is a risk factor for the valproic acid-related elevation of serum aminotransferases.
Saruwatari J, Deguchi M, Yoshimori Y, Noai M, Yoshida S, Ogusu N, Oniki K, Yoshida S, Yasui-Furukori N, Kaneko S, Ishitsu T, Nakagawa K.
Epilepsy Res. 2012 Mar;99(1-2):183-6. doi: 10.1016/j.eplepsyres.2011.10.033. Epub 2011 Nov 25.

○Selection of proper antiepileptic drugs.
Kaneko S, Yoshida S.
Rinsho Shinkeigaku. 2010 Nov;50(11):894. No abstract available.

○Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree.
Mori S, Nakamura M, Yasuda T, Ueno S, Kaneko S, Sano A.
J Hum Genet. 2011 Oct;56(10):742-7. doi: 10.1038/jhg.2011.93. Epub 2011 Aug 18.

○Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome.
Sakauchi M, Oguni H, Kato I, Osawa M, Hirose S, Kaneko S, Takahashi Y, Takayama R, Fujiwara T.
Epilepsia. 2011 Jun;52(6):1144-9. doi: 10.1111/j.1528-1167.2011.03053.x. Epub 2011 Apr 11.

○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.

○Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy.
Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, Ogawa A, Yasumoto S, Oguni H, Kure S, Fujii T, Ito M, Okuno T, Shirasaka Y, Natsume J, Hasegawa A, Konagaya A, Kaneko S, Hirose S.
Epilepsia. 2008 Sep;49(9):1528-34. doi: 10.1111/j.1528-1167.2008.01609.x. Epub 2008 Apr 21.

○Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
Osaka H, Ogiwara I, Mazaki E, Okamura N, Yamashita S, Iai M, Yamada M, Kurosawa K, Iwamoto H, Yasui-Furukori N, Kaneko S, Fujiwara T, Inoue Y, Yamakawa K.
Epilepsy Res. 2007 Jun;75(1):46-51. Epub 2007 May 15.

○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.

○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.

○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.

○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.

○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.

○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.

○25.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.