Associated Papers
Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy.
Corradi A et al.
Neurology. Genetics, 2026
To the editors: SCN1A gain-of-function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications.
Müller-Wöhrstein P et al.
Epilepsia Open, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.
Berg AT et al.
Brain : a Journal of Neurology, 2024
Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes.
Çapan ÖY et al.
Seizure, 2024
Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.
Thompson CH et al.
The Journal of General Physiology, 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
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 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
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
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
Gall K et al.
Plos One, 2021
The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.
Kim HJ et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy.
Miao P et al.
Molecular Genetics & Genomic Medicine, 2020
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S et al.
Scientific Reports, 2017