KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2

Atsushi Ishii; Tasuku Miyajima; Hirokazu Kurahashi; Ji-Wen Wang; Sawa Yasumoto; Sunao Kaneko; Shinichi Hirose

doi:10.1016/j.eplepsyres.2012.07.011

KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2

Epilepsy Res. 2012 Nov;102(1-2):122-5. doi: 10.1016/j.eplepsyres.2012.07.011. Epub 2012 Aug 10.

Authors

Atsushi Ishii¹, Tasuku Miyajima, Hirokazu Kurahashi, Ji-Wen Wang, Sawa Yasumoto, Sunao Kaneko, Shinichi Hirose

Affiliation

¹ Department of Pediatrics, Fukuoka University, Fukuoka, Japan.

PMID: 22884718
DOI: 10.1016/j.eplepsyres.2012.07.011

Abstract

The molecular pathogenesis of benign childhood epilepsy with centrotemporal spikes (BECTS) remains unclear whereas mutations of the KCNQ2 and KCNQ3 genes have been identified as causes of benign familial neonatal convulsions. We report here a girl with benign neonatal convulsions followed by BECTS, for whom a mutation of KCNQ2 was identified. This case may provide the clue to the understanding of the molecular pathogenesis of BECTS.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Electroencephalography
Epilepsy, Benign Neonatal / diagnosis
Epilepsy, Benign Neonatal / genetics*
Epilepsy, Benign Neonatal / physiopathology
Epilepsy, Rolandic / diagnosis
Epilepsy, Rolandic / genetics*
Epilepsy, Rolandic / physiopathology
Family Health
Female
Humans
Infant, Newborn
KCNQ2 Potassium Channel / chemistry
KCNQ2 Potassium Channel / genetics*
Pedigree
Protein Structure, Tertiary

Substances

KCNQ2 Potassium Channel
KCNQ2 protein, human