Publications:

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: HYPP: M1476I

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HYPP: M1476I

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN4A: M1476I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels.

British Journal Of Pharmacology

Cregg, R R; Cox, J J JJ; Bennett, D L H DL; Wood, J N JN; Werdehausen, R R

Publication Date: 2014-10

Variant appearance in text: SCN4A: M1476I

PubMed Link: 24866741

Variant Present in the following documents:

• Main text
• bph0171-4455.pdf

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Keeping hyperactive voltage-gated sodium channels in silent mode.

The Journal Of Physiology

Bendahhou, Saïd S

Publication Date: 2012-06-01

Variant appearance in text: SCN4A: M1476I

PubMed Link: 22787162

Variant Present in the following documents:

• Main text

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Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.

The Journal Of Physiology

Zhao, Juan J; Duprè, Nicolas N; Puymirat, Jack J; Chahine, Mohamed M

Publication Date: 2012-06-01

Variant appearance in text: SCN4A: M1476I

PubMed Link: 22250216

Variant Present in the following documents:

• Main text

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Skeletal muscle na channel disorders.

Frontiers In Pharmacology

Simkin, Dina D; Bendahhou, Saïd S

Publication Date: 2011

Variant appearance in text: Nav1.4: M1476I

PubMed Link: 22016737

Variant Present in the following documents:

• Main text
• fphar-02-00063.pdf

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Isolated eyelid closure myotonia in two families with sodium channel myotonia.

Neurogenetics

Stunnenberg, B C BC; Ginjaar, H B HB; Trip, J J; Faber, C G CG; van Engelen, B G BG; Drost, G G

Publication Date: 2010-05

Variant appearance in text: SCN4A: M1476I

PubMed Link: 19876661

Variant Present in the following documents:

• Main text

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Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable.

Molecular Pain

Dib-Hajj, Sulayman D SD; Estacion, Mark M; Jarecki, Brian W BW; Tyrrell, Lynda L; Fischer, Tanya Z TZ; Lawden, Mark M; Cummins, Theodore R TR; Waxman, Stephen G SG

Publication Date: 2008-09-19

Variant appearance in text: Nav1.4: M1476I

PubMed Link: 18803825

Variant Present in the following documents:

• 1744-8069-4-37.pdf

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