Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

Osaka, Hitoshi; Ogiwara, Ikuo; Mazaki, Emi; Okamura, Nami; Yamashita, Sumimasa; Iai, Mizue; Yamada, Michiko; Kurosawa, Kenji; Iwamoto, Hiroko; Yasui-Furukori, Norio; Kaneko, Sunao; Fujiwara, Tateki; Inoue, Yushi; Yamakawa, Kazuhiro

Osaka, Hitoshi; Ogiwara, Ikuo; Mazaki, Emi; Okamura, Nami; Yamashita, Sumimasa; Iai, Mizue; Yamada, Michiko; Kurosawa, Kenji; Iwamoto, Hiroko; Yasui-Furukori, Norio; Kaneko, Sunao; Fujiwara, Tateki; Inoue, Yushi; Yamakawa, Kazuhiro.

Affiliation

Osaka H; Division of Neurology, Kanagawa Children's Medical Center, Yokohama 232-8555, Japan. kcmc_ho@cameo.plala.or.jp

Epilepsy Res ; 75(1): 46-51, 2007 Jun.

Article in En | MEDLINE | ID: mdl-17507202

Subject(s)

Epilepsy/genetics; Genetic Predisposition to Disease; Mutation; Nerve Tissue Proteins/genetics; Sodium Channels/genetics; Adult; Child; DNA Mutational Analysis; Epilepsy/classification; Epilepsy/complications; Female; Humans; Isoleucine/genetics; Male; NAV1.1 Voltage-Gated Sodium Channel; Pedigree; Phenotype; Valine/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Sodium Channels / Genetic Predisposition to Disease / Epilepsy / Mutation / Nerve Tissue Proteins Limits: Adult / Child / Female / Humans / Male Language: En Journal: Epilepsy Res Journal subject: CEREBRO / NEUROLOGIA Year: 2007 Document type: Article Affiliation country: Japan Country of publication: Netherlands

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