Publications:

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When the Gates Swing Open Only: Arrhythmia Mutations That Target the Fast Inactivation Gate of Nav1.5.

Cells

Gamal El-Din, Tamer M TM

Publication Date: 2022-11-22

Variant appearance in text: SCN1A: F1486L

PubMed Link: 36496974

Variant Present in the following documents:

• Main text
• cells-11-03714.pdf

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN1A: F1486L

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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Comparative structural analysis of human Nav1.1 and Nav1.5 reveals mutational hotspots for sodium channelopathies.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Pan, Xiaojing X; Li, Zhangqiang Z; Jin, Xueqin X; Zhao, Yanyu Y; Huang, Gaoxingyu G; Huang, Xiaoshuang X; Shen, Zilin Z; Cao, Yong Y; Dong, Mengqiu M; Lei, Jianlin J; Yan, Nieng N

Publication Date: 2021-03-16

Variant appearance in text: SCN1A: F1486L

PubMed Link: 33712547

Variant Present in the following documents:

• Main text

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Predicting changes to INa from missense mutations in human SCN5A.

Scientific Reports

Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA

Publication Date: 2018-08-24

Variant appearance in text: SCN1A: F1486L

PubMed Link: 30143662

Variant Present in the following documents:

• 41598_2018_30577_MOESM1_ESM.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: F1486L

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Frontiers In Pharmacology

Loussouarn, Gildas G; Sternberg, Damien D; Nicole, Sophie S; Marionneau, Céline C; Le Bouffant, Francoise F; Toumaniantz, Gilles G; Barc, Julien J; Malak, Olfat A OA; Fressart, Véronique V; Péréon, Yann Y; Baró, Isabelle I; Charpentier, Flavien F

Publication Date: 2015

Variant appearance in text: Nav1.1: F1486L

PubMed Link: 26834636

Variant Present in the following documents:

• Main text

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Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.

The Journal Of Clinical Investigation

Jarecki, Brian W BW; Piekarz, Andrew D AD; Jackson, James O JO; Cummins, Theodore R TR

Publication Date: 2010-01

Variant appearance in text: Nav1.1: F1486L

PubMed Link: 20038812

Variant Present in the following documents:

• Main text

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