Associated Papers
Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach.
Park KS et al.
Annals of Laboratory Medicine, 2026
40958716 (PubMed )
Supplement: alm-46-1-94-supple1.xlsx › Table_S6
Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.
Shin S et al.
Pediatric Neurology, 2023
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
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
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
A case of recurrent encephalopathy with SCN2A missense mutation.
Fukasawa T et al.
Brain & Development, 2015
Select a paper to view details