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
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
Precision medicine approach for in vitro modeling and computational screening of anti-epileptic drugs in pediatric epilepsy patients with SCN2A (R1629L) mutation.
Kim J et al.
Computers in Biology and Medicine, 2025
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
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
Lyu H et al.
Ebiomedicine, 2023
Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates.
Pijpers JA et al.
Seizure, 2023
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Berecki G et al.
Communications Biology, 2022
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Richardson R et al.
American Journal of Medical Genetics. Part A, 2022
SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis.
Zeng Q et al.
Frontiers in Molecular Neuroscience, 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
Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.
Liu L et al.
Molecular Genetics & Genomic Medicine, 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
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M et al.
Seizure, 2019
Data on mutations and Clinical features in SCN1A or SCN2A gene.
Kong Y et al.
Data in Brief, 2019
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M et al.
Brain : a Journal of Neurology, 2017