PCDH19 mutation in Japanese females with epilepsy-Reference-Cited by-同舟云学术

PCDH19 mutation in Japanese females with epilepsy

Published:2012-03 Issue:1-2 Volume:99 Page:28-37
ISSN:0920-1211
Container-title:Epilepsy Research
language:en
Short-container-title:Epilepsy Research

Author:

Higurashi Norimichi,Shi Xiuyu,Yasumoto Sawa,Oguni Hirokazu,Sakauchi Masako,Itomi Kazuya,Miyamoto Akie,Shiraishi Hideaki,Kato Takeo,Makita Yoshio,Hirose Shinichi

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference28 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI);Arlier;J. Child Neurol.,2010

3. The SCN1A variant database: a novel research and diagnostic tool;Claes;Hum. Mutat.,2009

4. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion;den Dunnen;Hum. Mutat.,2000

5. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females;Depienne;PLoS Genet.,2009

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