ArticleMolecular genetics & genomic medicine2020
Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 19 citations in OpenAlex.
- Functional Characterization of a De NovoNeurology. Genetics · 2026Article
- To the editors: SCN1A gain-of-function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications.Epilepsia open · 2025Article
- Review
- Development and Adaptive Function in Individuals WithNeurology · 2025Article
- Interneuron FGF13 regulates seizure susceptibility via a sodium channel-independent mechanism.eLife · 2025Article
- DecipheringArXiv · 2024Article
- Interneuron FGF13 regulates seizure susceptibility via a sodium channel-independent mechanism.bioRxiv : the preprint server for biology · 2024Article
- Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.Brain : a journal of neurology · 2024Article
- Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-FunctionThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- Functional analysis of a novelFrontiers in molecular neuroscience · 2023Article
- Article
- Hyperexcitability and Pharmacological Responsiveness of Cortical Neurons Derived from Human iPSCs Carrying Epilepsy-Associated Sodium Channel Nav1.2-L1342P Genetic Variant.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- Neonatal Seizures: An Overview of Genetic Causes and Treatment Options.Brain sciences · 2021Review
- Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTo investigate the relationships among phenotypes, genotypes, and funotypes of SCN2A-related developmental epileptic encephalopathy (DEE).
methodsWe enrolled five DEE patients with five de novo variants of the SCN2A. Functional analysis and pharmacological features of Nav1.2 channel protein expressed in HEK293T cells were characterized by whole-cell patch-clamp recording.
resultsThe phenotypes of c.4712T>C(p. I1571T), c.2995G>A(p.E999K), and c.4015A>G(p. N1339D) variants showed similar characteristics, including early seizure onset with severe to profound intellectual disability. Electrophysiological recordings revealed a hyperpolarizing shift in the voltage dependence of the activation curve and smaller recovery time constants of fast-inactivation than in wild type, indicating a prominent gain of function (GOF). Moreover, pharmacological electrophysiology showed that phenytoin inhibited over a 70% peak current and was more effective than oxcarbazepine and carbamazepine. In contrast, c.4972C>T (p.P1658S) and c.5317G>A (p.A1773T) led to loss of function (LOF) changes, showing reduced current density and enhanced fast inactivation. Both showed seizure onset after 3 months of age with moderate development delay. Interestingly, we discovered that choreoathetosis was a specific phenotype feature.
conclusionThese findings provided the insights into the phenotype-genotype-funotype relationships of SCN2A-related DEE. The preliminary evaluation using the distinct hints of GOF and LOF helped plan the treatment, and the next precise step should be electrophysiological study.
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