title: A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures.
abstract: Epilepsy of infancy with migrating focal seizures (EIFMS) is a rare, early-onset epileptic encephalopathy characterized by polymorphous focal seizures. De novo mutations of KCNT1 have been identified in cases of this disorder. We encountered a sporadic patient with EIFMS, who suffered tonic convulsions at the age of 9 days. Using Sanger sequencing, we identified a de novo missense mutation of the same amino acid affected by a previously identified mutation, c.1420C>T (p.Arg474Cys).
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan; Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Shino
authors.initials: S
authors.lastname: Shimada
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Hirano
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
authors.forename: Susumu
authors.initials: S
authors.lastname: Ito
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Oguni
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
authors.forename: Satoru
authors.initials: S
authors.lastname: Nagata
authors.affiliation: Department of Pediatrics, Tokyo Women's Medical University , Tokyo, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.affiliation: Department of Pediatrics, Tokyo Women's Medical University , Tokyo, Japan.
authors.forename: Toshiyuki
authors.identifier: 0000-0002-9484-3505
authors.initials: T
authors.lastname: Yamamoto