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: N109K

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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Characterization of an N-terminal Nav1.5 channel variant - a potential risk factor for arrhythmias and sudden death?

Bmc Medical Genetics

Scheiper-Welling, Stefanie S; Zuccolini, Paolo P; Rauh, Oliver O; Beckmann, Britt-Maria BM; Geisen, Christof C; Moroni, Anna A; Thiel, Gerhard G; Kauferstein, Silke S

Publication Date: 2020-11-19

Variant appearance in text: SCN5A: Asn109Lys

PubMed Link: 33213388

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1170.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: LQT3: N109K

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page