Associated Papers
Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.
Berg AT et al.
Brain : a Journal of Neurology, 2024
38651838 (PubMed )
Supplement: awae125_supplementary_data.zip › brain-2023-02643-File011.xlsx › Sheet1
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
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
Stosser MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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