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: V1611F

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

View BVdb publication page

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The Role of the Persistent Sodium Current in Epilepsy.

Epilepsy Currents

Wengert, Eric R ER; Patel, Manoj K MK

Publication Date: 2021

Variant appearance in text: SMEI: V1611F

PubMed Link: 33236643

Variant Present in the following documents:

• Main text
• 10.1177_1535759720973978.pdf

View BVdb publication page

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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: 4831G>T; Val1611Phe

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

View BVdb publication page

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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: V1611F

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: V1611F; rs121918630

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: V1611F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Nature Genetics

Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ

Publication Date: 2013-05

Variant appearance in text: SCN1A: 4831G>T

PubMed Link: 23525077

Variant Present in the following documents:

• NIHMS474888-supplement-6.xlsx, sheet 1

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(What to do) when epilepsy gene mutations stop making sense.

Epilepsy Currents

Cooper, Edward C EC

Publication Date: 2007

Variant appearance in text: SCN1A: V1611F

PubMed Link: 17304347

Variant Present in the following documents:

• Main text

View BVdb publication page

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Persistent sodium current and its role in epilepsy.

Epilepsy Currents

Stafstrom, Carl E CE

Publication Date: 2007

Variant appearance in text: SCN1A: V1611F

PubMed Link: 17304346

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

The Journal Of Physiology

Rhodes, Thomas H TH; Vanoye, Carlos G CG; Ohmori, Iori I; Ogiwara, Ikuo I; Yamakawa, Kazuhiro K; George, Alfred L AL

Publication Date: 2005-12-01

Variant appearance in text: SCN1A: V1611F

PubMed Link: 16210358

Variant Present in the following documents:

• Main text

View BVdb publication page

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