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
Precision medicine for sodium channelopathy-related autism and epilepsy.
Robinson M et al.
Trends in Molecular Medicine, 2025
Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.
Hammer MF
Bioscience Reports, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
Cheerie D et al.
American Journal of Human Genetics, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.
Ganesan S et al.
Biorxiv : the Preprint Server for Biology, 2025
Variant-specific in vitro neuronal network phenotypes and drug sensitivity in SCN2A developmental and epileptic encephalopathy.
Jia L et al.
Journal of Neurochemistry, 2024
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
Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.
Mao M et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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
A way forward for diagnosis of patients with extremely rare genetic mutations.
Crooke ST et al.
Nature Biotechnology, 2023
Ataxia and Diplopia: A New SCN8A-Related Phenotype.
Laliberté A et al.
Neurology. Genetics, 2023
Clinical utility of exome sequencing in a pediatric epilepsy cohort.
Graifman JL et al.
Epilepsia, 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
Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing.
Chen J et al.
Journal of Human Genetics, 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
SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis.
Zeng Q et al.
Frontiers in Molecular Neuroscience, 2022
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
Enhanced slow inactivation contributes to dysfunction of a recurrent SCN2A mutation associated with developmental and epileptic encephalopathy.
Ganguly S et al.
The Journal of Physiology, 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
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.
Arisaka A et al.
Epilepsy & Behavior Reports, 2021
Differential Functional Changes of Nav1.2 Channel Causing SCN2A-Related Epilepsy and Status Epilepticus During Slow Sleep.
Miao P et al.
Frontiers in Neurology, 2021
Functional analysis of three Nav1.6 mutations causing early infantile epileptic encephalopathy.
Solé L et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
Neonatal SCN2A encephalopathy: A peculiar recognizable electroclinical sequence.
Melikishvili G et al.
Epilepsy & Behavior : E&b, 2020
Functional and pharmacological evaluation of a novel SCN2A variant linked to early-onset epilepsy.
Adney SK et al.
Annals of Clinical and Translational Neurology, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy.
Miao P et al.
Molecular Genetics & Genomic Medicine, 2020
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.
Wolff M et al.
Epilepsia, 2019
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 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
Data on mutations and Clinical features in SCN1A or SCN2A gene.
Kong Y et al.
Data in Brief, 2019
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
Xiong J et al.
Frontiers in Neuroscience, 2019