Associated Papers
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.
Tan M et al.
Epilepsia, 2026
Deciphering SCN2A: A comprehensive review of rodent models of Scn2a dysfunction.
Scott KEJ et al.
Epilepsia, 2025
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder.
Srinath S et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.
Stein D et al.
Genome Medicine, 2023
Clinical characteristics and genetic analysis of pediatric patients with sodium channel gene mutation-related childhood epilepsy: a review of 94 patients.
Fang H et al.
Frontiers in Neurology, 2023
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Richardson R et al.
American Journal of Medical Genetics. Part A, 2022
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
Parental mosaicism in de novo neurodevelopmental diseases.
Shu L et al.
American Journal of Medical Genetics. Part A, 2021
Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders.
Zhang Y et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2021
Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.
Ademuwagun IA et al.
Frontiers in Neurology, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Begemann A et al.
Molecular Medicine (cambridge, Mass.), 2019
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
Lauxmann S et al.
Human Mutation, 2018
The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing.
Liu XW et al.
Clinical Neurology and Neurosurgery, 2018
Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.
Ogiwara I et al.
Communications Biology, 2018
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo H et al.
Molecular Autism, 2018
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Genetic and epigenetic mechanisms of epilepsy: a review.
Chen T et al.
Neuropsychiatric Disease and Treatment, 2017
Negative-dominance phenomenon with genetic variants of the cardiac sodium channel Nav1.5.
Sottas V et al.
Biochimica Et Biophysica Acta, 2016
Genotype phenotype associations across the voltage-gated sodium channel family.
Brunklaus A et al.
Journal of Medical Genetics, 2014
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
Baasch AL et al.
Epilepsia, 2014
The molecular biology of genetic-based epilepsies.
Deng H et al.
Molecular Neurobiology, 2014
Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T.
Lossin C et al.
Neurobiology of Disease, 2012
Molecular bases and clinical spectrum of early infantile epileptic encephalopathies.
Tavyev Asher YJ et al.
European Journal of Medical Genetics, 2012
Dravet syndrome: insights from in vitro experimental models.
Mantegazza M
Epilepsia, 2011
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.
Meisler MH et al.
The Journal of Physiology, 2010
De novo nonsense mutations in the sodium channel gene, SCN2A, in sporadic intractable epilepsy.
Franciosi S
Clinical Genetics, 2010
De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
Ogiwara I et al.
Neurology, 2009
Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.
Medeiros-Domingo A et al.
Heart Rhythm, 2009
Mechanisms of human inherited epilepsies.
Reid CA et al.
Progress in Neurobiology, 2009
Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.
McArdle EJ et al.
American Journal of Medical Genetics. Part A, 2008
[Na channel gene mutations and epilepsy mouse model].
Yamakawa K
No to Hattatsu = Brain and Development, 2007
Neonatal epilepsy syndromes and GEFS+: mechanistic considerations.
Burgess DL
Epilepsia, 2005
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.
Kamiya K et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2004
Resurgent and Gating Pore Currents Induced by De Novo SCN2A Epilepsy Mutations.
Mason ER et al.
Eneuro, 0