Associated Papers
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Owen MJ et al.
Nature Communications, 2022
35882841 (PubMed )
Supplement: 41467_2022_31446_MOESM1_ESM.pdf
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Brunklaus A et al.
Human Mutation, 2020
The Role of Voltage-Gated Sodium Channels in Pain Signaling.
Bennett DL et al.
Physiological Reviews, 2019
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A et al.
Frontiers in Neuroscience, 2019
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
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.
Xu X et al.
Human Mutation, 2015
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Meng H et al.
Human Mutation, 2015
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.
Kanai K et al.
Journal of Medical Genetics, 2009
A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies?
Rusconi R et al.
Human Mutation, 2009
Solution structure of the NaV1.2 C-terminal EF-hand domain.
Miloushev VZ et al.
The Journal of Biological Chemistry, 2009
Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.
Rusconi R et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007
Genes and loci involved in febrile seizures and related epilepsy syndromes.
Audenaert D et al.
Human Mutation, 2006
Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.
Kanai K et al.
Neurology, 2004
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