A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes-Reference-Cited by-同舟云学术

A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes

Published:2012-04 Issue:1-2 Volume:315 Page:15-19
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Yoshinaga Harumi,Sakoda Shunichi,Good Jean-Marc,Takahashi Masanori P.,Kubota Tomoya,Arikawa-Hirasawa Eri,Nakata Tomohiko,Ohno Kinji,Kitamura Tetsuro,Kobayashi Katsuhiro,Ohtsuka Yoko

Funder

Ministry of Education, Culture, Sports, Science and Technology

Ministry of Health, Labor and Welfare of Japan

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference18 articles.

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2. The non-dystrophic myotonicas: molecular pathogenesis, diagnosis and treatment;Matthews;Brain,2010

3. Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene;Plassart;J Neurol Sci,1996

4. Autosomal dominant monosymptomatic myotonia premanens;Colding-Jorgensen;Neurology,2006

5. Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker;Lerche;J Physiol,1993

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