ArticleEpilepsy research2017
De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.
Article in Epilepsy research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 40 citations in OpenAlex.
- Voltage-Gated Sodium Channel Dysfunction in Epilepsy: Zebrafish Models for Therapeutics.Biomedicines · 2025Review
- Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population.Journal of human genetics · 2024Article
- Expanding the genotype-phenotype spectrum in SCN8A-related disorders.BMC neurology · 2024Article
- Genetic Background of Epilepsy and Antiepileptic Treatments.International journal of molecular sciences · 2023Review
- Article
- Cannabidiol Increases Seizure Resistance and Improves Behavior in anFrontiers in pharmacology · 2022Article
- Social Deficits and Cerebellar Degeneration in Purkinje CellFrontiers in molecular neuroscience · 2022Article
- Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders.Frontiers in molecular neuroscience · 2022Article
- Autistic-like behavior, spontaneous seizures, and increased neuronal excitability in a Scn8a mouse model.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2021Article
- NRXN1αBMC neuroscience · 2021Article
- Review
- Pathogenic in-Frame Variants inFrontiers in pharmacology · 2021Article
- CaMKII enhances voltage-gated sodium channel Nav1.6 activity and neuronal excitability.The Journal of biological chemistry · 2020Article
- Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.Frontiers in pharmacology · 2020Review
- Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy.Epilepsia · 2019Article
- Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.Human mutation · 2018Article
- De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Incorporating epilepsy genetics into clinical practice: a 360°evaluation.NPJ genomic medicine · 2018Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
objectivesTo determine the incidence of pathogenic SCN8A variants in a cohort of epilepsy patients referred for clinical genetic testing. We also investigated the contribution of SCN8A to autism spectrum disorder, intellectual disability, and neuromuscular disorders in individuals referred for clinical genetic testing at the same testing laboratory.
methodsSequence data from 275 epilepsy panels screened by Emory Genetics Laboratory were reviewed for variants in SCN8A. Two additional cases with variants in SCN8A were ascertained from other testing laboratories. Parental samples were tested for variant segregation and clinical histories were examined. SCN8A variants detected from gene panel analyses for autism spectrum disorder, intellectual disability, and neuromuscular disorders were also examined.
resultsFive variants in SCN8A were identified in five individuals with epilepsy. Three variants were de novo, one was inherited from an affected parent, and one was inherited from an unaffected parent. Four of the individuals have epilepsy and developmental delay/intellectual disability. The remaining individual has a milder epilepsy presentation without cognitive impairment. We also identified an amino acid substitution at an evolutionarily conserved SCN8A residue in a patient who was screened on the autism spectrum disorder panel. Additionally, we examined the distribution of pathogenic SCN8A variants across the Na
conclusionsVariants in SCN8A may be responsible for a spectrum of epilepsies as well as other neurodevelopmental disorders without seizures. The predominant pathogenic mechanism appears to involve disruption of channel inactivation, leading to gain-of-function effects.
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