ArticleMolecular medicine (Cambridge, Mass.)2019
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Article in Molecular medicine (Cambridge, Mass.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 67 citations in OpenAlex.
- Nonsense-mediated decay influences position-dependent effects of SCN2A premature stop codons on neuronal excitability and behavior.Molecular psychiatry · 2026Article
- Epilepsy-associated SCN2A-L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids.Epilepsia · 2026Article
- Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.Epilepsia · 2026Article
- Degraded sensory coding in a mouse model ofbioRxiv : the preprint server for biology · 2025Article
- Review
- Autism-associatedProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Development and Adaptive Function in Individuals WithNeurology · 2025Article
- Identification ofJournal of medical genetics · 2025Article
- SCN2A gene mutations with epilepsy: single center experience.Italian journal of pediatrics · 2025Article
- Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders.American journal of human genetics · 2025Article
- DecipheringArXiv · 2024Article
- Novel KCNQ2 missense variant expands the genotype spectrum of DEE7.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Two Novel Variants in theGenes · 2024Article
- A Novel Ubiquitin Ligase Adaptor PTPRN Suppresses Seizure Susceptibility through Endocytosis of NaAdvanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.Brain : a journal of neurology · 2024Article
- Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- Molecular Pharmacology of Selective NaACS chemical neuroscience · 2024Article
- Article
- Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.The Journal of general physiology · 2023Article
- A way forward for diagnosis of patients with extremely rare genetic mutations.Nature biotechnology · 2023Article
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Authors and funding
17 authors at 8 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDeleterious variants in the voltage-gated sodium channel type 2 (Na
methodsTo further elucidate the genotype-phenotype correlation of SCN2A variants we investigated the functional effects of six variants representing the phenotypic spectrum by whole-cell patch-clamp studies in transfected HEK293T cells and in-silico structural modeling.
resultsThe two variants p.L1342P and p.E1803G detected in patients with early onset epileptic encephalopathy (EE) showed profound and complex changes in channel gating, whereas the BFNIE variant p.L1563V exhibited only a small gain of channel function. The three variants identified in ID patients without seizures, p.R937C, p.L611Vfs*35 and p.W1716*, did not produce measurable currents. Homology modeling of the missense variants predicted structural impairments consistent with the electrophysiological findings.
conclusionsOur findings support the hypothesis that complete loss-of-function variants lead to ID without seizures, small gain-of-function variants cause BFNIE and EE variants exhibit variable but profound Na
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