Associated Papers
Autism-related phenotypes in a heterozygous Scn2aR854Q mouse model and their partial rescue via a potassium channel opener.
Ismail H et al.
Neuropharmacology, 2026
Clinical and Neuropsychological Phenotyping of Individuals With Somatic Variants in Neurodevelopmental Disorders.
Mo 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
Pathogenic gating pore current conducted by autism-related mutations in the NaV1.2 brain sodium channel.
Eltokhi A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.
Thompson CH et al.
The Journal of General Physiology, 2023
Scanning mutagenesis of the voltage-gated sodium channel NaV1.2 using base editing.
Pablo JLB et al.
Cell Reports, 2023
Epilepsy-associated SCN2A (Na V 1.2) Variants Exhibit Diverse and Complex Functional Properties.
Thompson CH et al.
Biorxiv : the Preprint Server for Biology, 2023
Polymicrogyria with Dysmorphic Neurons in a Patient with SNCA2 Mutation.
Gelot AB et al.
Journal of Neuropathology and Experimental Neurology, 2022
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Berecki G et al.
Communications Biology, 2022
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
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.
Nakajima T et al.
Channels (austin, Tex.), 2019
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Willig LK et al.
The Lancet. Respiratory Medicine, 2015
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Soden SE et al.
Science Translational Medicine, 2014