Associated Papers
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.
Tan M et al.
Epilepsia, 2026
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
Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.
Berg AT et al.
Brain : a Journal of Neurology, 2024
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.
Thompson CH et al.
The Journal of General Physiology, 2023
Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.
Asadollahi R et al.
Human Molecular Genetics, 2023
Predicting functional effects of ion channel variants using new phenotypic machine learning methods.
Boßelmann CM et al.
Plos Computational Biology, 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
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Berecki G et al.
Communications Biology, 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
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
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Brunklaus A et al.
Epilepsia, 2020
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
Location: A surrogate for personalized treatment of sodium channelopathies.
Holland KD et al.
Annals of Neurology, 2018
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.
Ben-Shalom R et al.
Biological Psychiatry, 2017
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
Prioritization of neurodevelopmental disease genes by discovery of new mutations.
Hoischen A et al.
Nature Neuroscience, 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
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A et al.
Lancet (london, England), 2012