De novo gain-of-function and loss-of-function mutations ofSCN8Ain patients with intellectual disabilities and epilepsy-Reference-Cited by-同舟云学术

De novo gain-of-function and loss-of-function mutations ofSCN8Ain patients with intellectual disabilities and epilepsy

Published:2015-02-27 Issue:5 Volume:52 Page:330-337
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Blanchard Maxime G,Willemsen Marjolein H,Walker Jaclyn B,Dib-Hajj Sulayman D,Waxman Stephen G,Jongmans Marjolijn CJ,Kleefstra Tjitske,van de Warrenburg Bart P,Praamstra Peter,Nicolai Joost,Yntema Helger G,Bindels René JM,Meisler Miriam H,Kamsteeg Erik-Jan

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference48 articles.

1. International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels;Catterall;Pharmacol Rev,2005

2. A novel, abundant sodium channel expressed in neurons and glia;Schaller;J Neurosci,1995

3. Developmental and regional expression of sodium channel isoform NaCh6 in the rat central nervous system;Schaller;J Comp Neurol,2000

4. Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease;Burgess;Nat Genet,1995

5. Distinct contributions of Na(v)1.6 and Na(v)1.2 in action potential initiation and backpropagation;Hu;Nat Neurosci,2009

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