Publications:

Roles for Countercharge in the Voltage Sensor Domain of Ion Channels.

Frontiers In Pharmacology

Groome, James R JR; Bayless-Edwards, Landon L

Publication Date: 2020

Variant appearance in text: SCN1A: E1253G

PubMed Link: 32180723

Variant Present in the following documents:

• Main text
• fphar-11-00160.pdf

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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: E1253G

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

Journal Of Medical Genetics

Walsh, Roddy R; Peters, Nicholas S NS; Cook, Stuart A SA; Ware, James S JS

Publication Date: 2014-01

Variant appearance in text: SCN1A: 3758A>G; E1253G

PubMed Link: 24136861

Variant Present in the following documents:

• Main text

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