Publications:

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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: F902C

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: F902C

PubMed Link: 33712547

Variant Present in the following documents:

• Main text

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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: F902C

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

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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: SMEI: F902C; rs121918787

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: SCN1A: F902C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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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: F902C

PubMed Link: 24136861

Variant Present in the following documents:

• Main text
• jmedgenet-2013-101917.pdf

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A plethora of SCN1A mutations: what can they tell us?

Epilepsy Currents

Wallace, Robyn R

Publication Date: 2005

Variant appearance in text: SCN1A: F902C

PubMed Link: 16059449

Variant Present in the following documents:

• Main text

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Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.

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

Rhodes, Thomas H TH; Lossin, Christoph C; Vanoye, Carlos G CG; Wang, Dao W DW; George, Alfred L AL

Publication Date: 2004-07-27

Variant appearance in text: SCN1A: F902C

PubMed Link: 15263074

Variant Present in the following documents:

• Main text

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