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: SCN4A: P382T

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.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: HYPP: P382T

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Brain : A Journal Of Neurology

Zaharieva, Irina T IT; Thor, Michael G MG; Oates, Emily C EC; van Karnebeek, Clara C; Hendson, Glenda G; Blom, Eveline E; Witting, Nanna N; Rasmussen, Magnhild M; Gabbett, Michael T MT; Ravenscroft, Gianina G; Sframeli, Maria M; Suetterlin, Karen K; Sarkozy, Anna A; D'Argenzio, Luigi L; Hartley, Louise L; Matthews, Emma E; Pitt, Matthew M; Vissing, John J; Ballegaard, Martin M; Krarup, Christian C; Slørdahl, Andreas A; Halvorsen, Hanne H; Ye, Xin Cynthia XC; Zhang, Lin-Hua LH; Løkken, Nicoline N; Werlauff, Ulla U; Abdelsayed, Mena M; Davis, Mark R MR; Feng, Lucy L; Phadke, Rahul R; Sewry, Caroline A CA; Morgan, Jennifer E JE; Laing, Nigel G NG; Vallance, Hilary H; Ruben, Peter P; Hanna, Michael G MG; Lewis, Suzanne S; Kamsteeg, Erik-Jan EJ; Männikkö, Roope R; Muntoni, Francesco F

Publication Date: 2016-03

Variant appearance in text: SCN4A: P382T

PubMed Link: 26700687

Variant Present in the following documents:

• Main text
• awv352.pdf

View BVdb publication page