A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures

Shino Shimada; Yoshiko Hirano; Susumu Ito; Hirokazu Oguni; Satoru Nagata; Keiko Shimojima; Toshiyuki Yamamoto

doi:10.1038/hgv.2014.27

A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures

Hum Genome Var. 2014 Dec 4:1:14027. doi: 10.1038/hgv.2014.27. eCollection 2014.

Authors

Shino Shimada¹, Yoshiko Hirano², Susumu Ito², Hirokazu Oguni², Satoru Nagata², Keiko Shimojima³, Toshiyuki Yamamoto³

Affiliations

¹ Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan; Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
² Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
³ Department of Pediatrics, Tokyo Women's Medical University , Tokyo, Japan.

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).