title: A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.
abstract: We report a family with complex febrile seizures (FS). The proband is a 15-year-old boy with seizures that persisted beyond 6 years of age. His father, aunt, and cousin also have the histories of FS until 8, 9, and 8 years old, respectively. A base substitution 5569G-->T of voltage-gated sodium channel alpha-1 subunit gene was found in DNA derived from the affected members of this family.
authors.affiliation: Department of Pediatrics, Social Health Insurance Medical Center, 3-22-1 Hyakunin-cho, Shinjuku, Tokyo 1690073, Japan. yn-nagao@par.odn.ne.jp
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Nagao
authors.forename: Emi
authors.initials: E
authors.lastname: Mazaki-Miyazaki
authors.forename: Nami
authors.initials: N
authors.lastname: Okamura
authors.forename: Manabu
authors.initials: M
authors.lastname: Takagi
authors.forename: Takashi
authors.initials: T
authors.lastname: Igarashi
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Yamakawa
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D004829:Epilepsy, Generalized / Q000150:complications / Q000235:genetics*; D005192:Family Health; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000097:blood / Q000235:genetics*; D010375:Pedigree; D003294:Seizures, Febrile / Q000097:blood / Q000150:complications / Q000235:genetics*; D017385:Sequence Homology; D015222:Sodium Channels / Q000097:blood / Q000235:genetics*
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels