Associated Papers
Predicting functional effects of ion channel variants using new phenotypic machine learning methods.
Boßelmann CM et al.
Plos Computational Biology, 2023
36877742 (PubMed )
Supplement: pcbi.1010959.s004.pdf
Clinical characteristics and genetic analysis of pediatric patients with sodium channel gene mutation-related childhood epilepsy: a review of 94 patients.
Fang H et al.
Frontiers in Neurology, 2023
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.
Duan J et al.
Brain : a Journal of Neurology, 2022
35231114 (PubMed )
Supplement: awac053_supplementary_data.zip › brain-2021-02368-File005.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
Clinical and genetic spectrum of SCN2A-associated episodic ataxia.
Schwarz N et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2019
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