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
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Molecular basis for pore blockade of human Na+ channel Nav1.2 by the μ-conotoxin KIIIA.
Pan X et al.
Science (new York, N.y.), 2019
30765605 (PubMed )
Supplement: aaw2999-pan-sm.pdf
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.
Schwarz N et al.
Journal of Neurology, 2016
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