Associated Papers
Decoding SCN2A Variants: Bridging Genetics and Phenotypes in Autism Spectrum Disorder.
DiStefano N et al.
Journal of Clinical Medicine, 2025
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
Differential Functional Changes of Nav1.2 Channel Causing SCN2A-Related Epilepsy and Status Epilepticus During Slow Sleep.
Miao P et al.
Frontiers in Neurology, 2021
Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.
Wolff M et al.
Epilepsia, 2019
Resurgent and Gating Pore Currents Induced by De Novo SCN2A Epilepsy Mutations.
Mason ER et al.
Eneuro, 0
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