Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures-Reference-Cited by-同舟云学术

Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures

Published:2015-03-20 Issue:3 Volume:10 Page:e0118946
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Yamamoto Toshiyuki,Shimojima Keiko,Sangu Noriko,Komoike Yuta,Ishii Atsushi,Abe Shinpei,Yamashita Shintaro,Imai Katsumi,Kubota Tetsuo,Fukasawa Tatsuya,Okanishi Tohru,Enoki Hideo,Tanabe Takuya,Saito Akira,Furukawa Toru,Shimizu Toshiaki,Milligan Carol J.,Petrou Steven,Heron Sarah E.,Dibbens Leanne M.,Hirose Shinichi,Okumura Akihisa

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference33 articles.

1. Benign partial epilepsies in infancy;K Watanabe;Brain Dev,2000

2. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009;AT Berg;Epilepsia,2010

3. Benign partial epilepsy in infancy long-term outcome and marginal syndromes;A Okumura;Epilepsy Res,2006

4. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia;WJ Chen;Nat Genet,2011

5. PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome;SE Heron;Am J Hum Genet,2012

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