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: SCN1A: G1494E

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders.

European Journal Of Human Genetics : Ejhg

van der Werf, Ilse M IM; Jansen, Sandra S; de Vries, Petra F PF; Gerstmans, Amber A; van de Vorst, Maartje M; Van Dijck, Anke A; de Vries, Bert B A BBA; Gilissen, Christian C; Hoischen, Alexander A; Vissers, Lisenka E L M LELM; Kooy, R Frank RF; Vandeweyer, Geert G

Publication Date: 2020-12

Variant appearance in text: SCN1A: 4481G>A; Gly1494Glu

PubMed Link: 32651551

Variant Present in the following documents:

• Main text

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