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J-GLOBAL ID：201902220328139668   Reference number：19S1537892

A CACNB4 mutation shows that altered Cav2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy

Author (9)： Ohmori, Iori (Department of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University) ,  Nishiki, Teiichi (Department of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University) ,  Tomizawa, Kazuhito (Department of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University) ,  Matsui, Hideki (Department of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University) ,  Ouchida, Mamoru (Department of Molecular Genetics, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University) ,  Miki, Takafumi (Department of Synthetic Chemistry and Biological Chemistry, Graduate School of Engineering, Kyoto University) ,  Kiyonaka, Shigeki (Department of Synthetic Chemistry and Biological Chemistry, Graduate School of Engineering, Kyoto University) ,  Mori, Yasuo (Department of Synthetic Chemistry and Biological Chemistry, Graduate School of Engineering, Kyoto University) ,  Mimaki, Nobuyoshi (Pediatrics, Kurashiki Medical Center)
Material： Neurobiology of Disease
Volume： 32  Issue： 3  Page： 349-354  Publication year： 2008 
JST Material Number： SCOPUS  ISSN： 0969-9961  CODEN： NUDIE 
Country of issue： United States (USA)  Language： English (EN)

Terms in the title (1)： Be