Associated Papers
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.
Tan M et al.
Epilepsia, 2026
Genetic Variants and Disease Mechanisms: Lessons from Monogenic Childhood Epilepsies.
Oberlack A et al.
Neuropediatrics, 2026
Deciphering SCN2A: A comprehensive review of rodent models of Scn2a dysfunction.
Scott KEJ et al.
Epilepsia, 2025
Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.
Hammer MF
Bioscience Reports, 2025
FDG PET Findings in Rare Brain Sodium Channelopathy Associated with SCN2A Gene Mutation.
Seniaray N et al.
Clinical Nuclear Medicine, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Rare dysfunctional SCN2A variants are associated with malformation of cortical development.
Clatot J et al.
Epilepsia, 2025
Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome Sequencing.
Ambrose A et al.
Neurology. Genetics, 2025
Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.
Berg AT et al.
Brain : a Journal of Neurology, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B et al.
Epilepsia Open, 2023
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
Lyu H et al.
Ebiomedicine, 2023
Functional analysis of a novel de novo SCN2A variant in a patient with seizures refractory to oxcarbazepine.
Hu X et al.
Frontiers in Molecular Neuroscience, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice.
Echevarria-Cooper DM et al.
Human Molecular Genetics, 2022
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Berecki G et al.
Communications Biology, 2022
Hyperexcitability and Pharmacological Responsiveness of Cortical Neurons Derived from Human iPSCs Carrying Epilepsy-Associated Sodium Channel Nav1.2-L1342P Genetic Variant.
Que Z et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
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
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
Spagnoli C et al.
International Journal of Molecular Sciences, 2021
Sodium channelopathies in neurodevelopmental disorders.
Meisler MH et al.
Nature Reviews. Neuroscience, 2021
Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.
Ademuwagun IA et al.
Frontiers in Neurology, 2021
Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders.
van der Werf IM et al.
European Journal of Human Genetics : Ejhg, 2020
The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.
Kim HJ et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
Garone G et al.
International Journal of Molecular Sciences, 2020
Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.
Wolff M et al.
Epilepsia, 2019
The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M et al.
Seizure, 2019
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
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
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Begemann A et al.
Molecular Medicine (cambridge, Mass.), 2019
Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report.
Huang Q et al.
Medicine, 2019
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
Lauxmann S et al.
Human Mutation, 2018