Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus-Reference-Cited by-同舟云学术

Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus

Published:2018-05-17 Issue:7 Volume:39 Page:965-969
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Wagnon Jacy L.¹^ORCID,Mencacci Niccolò E.²³,Barker Bryan S.⁴⁵,Wengert Eric R.⁴⁵,Bhatia Kailash P.⁶,Balint Bettina⁶,Carecchio Miryam⁷⁸⁹,Wood Nicholas W.³,Patel Manoj K.⁴⁵,Meisler Miriam H.¹¹⁰

Affiliation:

1. Department of Human Genetics; University of Michigan; Ann Arbor Michigan

2. Department of Neurology; Northwestern University; Chicago Illinois

3. Department of Molecular Neuroscience; UCL Institute of Neurology; London UK

4. Department of Anesthesiology; University of Virginia; Charlottesville Virginia

5. Neuroscience Graduate Program; University of Virginia; Charlottesville Virginia

6. Sobell Department; Institute of Neurology; University College of London; London UK

7. Molecular Neurogenetics Unit; IRCCS Foundation Carlo Besta Neurological Institute; Milan Italy

8. Department of Pediatric Neurology; IRCCS Foundation Carlo Besta Neurological Institute; Milan Italy

9. Department of Medicine and Surgery; PhD Programme in Molecular and Translational Medicine; Milan Bicocca University; Monza Italy

10. Department of Neurology; University of Michigan; Ann Arbor Michigan

Funder

National Institutes of Health

University of Virginia

Emergency Nurses Association Foundation

Robert Bosch Stiftung

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference25 articles.

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3. Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’;Burgess;Nature Genetics,1995

4. De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis;Butler;Epilepsy Research,2017

5. Metabolic changes in DYT11 myoclonus-dystonia;Carbon;Neurology,2013

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