title: Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.
abstract: Mutations in the neuronal voltage-gated sodium channel alpha-subunit type I gene (SCN1A) were found responsible for severe myoclonic epilepsy in infancy (SMEI). The authors describe novel mutations of SCN1A in Japanese patients with SMEI. They screened 12 unrelated patients and a pair of monozygotic twins and detected 10 mutations that lead to truncation of the protein.
authors.affiliation: Laboratory for Neurogenetics, RIKEN, Brain Science Institute, Saitama, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Sugawara
authors.forename: E
authors.initials: E
authors.lastname: Mazaki-Miyazaki
authors.forename: K
authors.initials: K
authors.lastname: Fukushima
authors.forename: J
authors.initials: J
authors.lastname: Shimomura
authors.forename: T
authors.initials: T
authors.lastname: Fujiwara
authors.forename: S
authors.initials: S
authors.lastname: Hamano
authors.forename: Y
authors.initials: Y
authors.lastname: Inoue
authors.forename: K
authors.initials: K
authors.lastname: Yamakawa
mesh_terms: D004200:Diseases in Twins / Q000235:genetics; D004831:Epilepsies, Myoclonic / Q000235:genetics* / Q000503:physiopathology; D004829:Epilepsy, Generalized / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D015222:Sodium Channels / Q000737:chemistry / Q000235:genetics*; D014430:Twins, Monozygotic / Q000235:genetics
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels