Literature DB >> 22884718

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

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

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.
Copyright © 2012 Elsevier B.V. All rights reserved.

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Year:  2012        PMID: 22884718     DOI: 10.1016/j.eplepsyres.2012.07.011

Source DB:  PubMed          Journal:  Epilepsy Res        ISSN: 0920-1211            Impact factor:   3.045


  3 in total

1.  Conditional deletions of epilepsy-associated KCNQ2 and KCNQ3 channels from cerebral cortex cause differential effects on neuronal excitability.

Authors:  Heun Soh; Rima Pant; Joseph J LoTurco; Anastasios V Tzingounis
Journal:  J Neurosci       Date:  2014-04-09       Impact factor: 6.167

2.  Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations.

Authors:  Yukiko Ihara; Yuko Tomonoh; Masanobu Deshimaru; Bo Zhang; Taku Uchida; Atsushi Ishii; Shinichi Hirose
Journal:  PLoS One       Date:  2016-02-24       Impact factor: 3.240

3.  Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study.

Authors:  Pan Gong; Jiao Xue; Xianru Jiao; Yuehua Zhang; Zhixian Yang
Journal:  Front Genet       Date:  2021-04-08       Impact factor: 4.599

  3 in total

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