Publications:

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: SCN5A: S1218I

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Journal Of Korean Medical Science

Son, Min-Jeong MJ; Kim, Min-Kyoung MK; Yang, Kyung-Moo KM; Choi, Byung-Ha BH; Lee, Bong Woo BW; Yoo, Seong Ho SH

Publication Date: 2018-08-06

Variant appearance in text: SCN5A: S1218I

PubMed Link: 30079003

Variant Present in the following documents:

• Main text
• jkms-33-e200.pdf

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Dysfunctional Nav1.5 channels due to SCN5A mutations.

Experimental Biology And Medicine (Maywood, N.J.)

Han, Dan D; Tan, Hui H; Sun, Chaofeng C; Li, Guoliang G

Publication Date: 2018-06

Variant appearance in text: SCN5A: S1218I

PubMed Link: 29806494

Variant Present in the following documents:

• Main text

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Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges.

Human Mutation

Pejaver, Vikas V; Mooney, Sean D SD; Radivojac, Predrag P

Publication Date: 2017-09

Variant appearance in text: SCN5A: Ser1218Ile

PubMed Link: 28508593

Variant Present in the following documents:

• Main text

View BVdb publication page