Publications:

A leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy.

Scientific Reports

Moreau, Adrien A; Gosselin-Badaroudine, Pascal P; Mercier, Aurélie A; Burger, Bettina B; Keller, Dagmar I DI; Chahine, Mohamed M

Publication Date: 2018-09-14

Variant appearance in text: Nav1.1: R1325T

PubMed Link: 30218094

Variant Present in the following documents:

• 41598_2018_31772_MOESM1_ESM.pdf

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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research

Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S

Publication Date: 2017-10

Variant appearance in text: SCN1A: 3974G>C; Arg1325Thr

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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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: Nav1.1: R1325T

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

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