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: P1632S

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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The L1624Q Variant in SCN1A Causes Familial Epilepsy Through a Mixed Gain and Loss of Channel Function.

Frontiers In Pharmacology

Jones, Laura B LB; Peters, Colin H CH; Rosch, Richard E RE; Owers, Maxine M; Hughes, Elaine E; Pal, Deb K DK; Ruben, Peter C PC

Publication Date: 2021

Variant appearance in text: SCN1A: P1632S

PubMed Link: 34925043

Variant Present in the following documents:

• Main text
• fphar-12-788192.pdf

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L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.

Membranes

Tarnovskaya, Svetlana I SI; Kostareva, Anna A AA; Zhorov, Boris S BS

Publication Date: 2021-08-07

Variant appearance in text: SCN1A: P1632S

PubMed Link: 34436362

Variant Present in the following documents:

• Main text
• membranes-11-00599.pdf

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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: P1632S

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: 4894C>T; Pro1632Ser

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: P1632S

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: P1632S; rs121918755

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: P1632S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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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: P1632S

PubMed Link: 17304347

Variant Present in the following documents:

• Main text

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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: P1632S

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: P1632S

PubMed Link: 16210358

Variant Present in the following documents:

• Main text

View BVdb publication page

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