Associated Papers
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
Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia.
Maksemous N et al.
Biomedicines, 2020
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
Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity.
Maksemous N et al.
International Journal of Molecular Sciences, 2018
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