Associated Papers
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Berecki G et al.
Communications Biology, 2022
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.
Crawford K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33731876 (PubMed )
Supplement: 41436_2021_1120_MOESM1_ESM.pdf
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Begemann A et al.
Molecular Medicine (cambridge, Mass.), 2019
30813884 (PubMed )
Supplement: 10020_2019_73_MOESM1_ESM.docx
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
Lauxmann S et al.
Human Mutation, 2018
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M et al.
Brain : a Journal of Neurology, 2017
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