ArticleEpilepsia2016
SCN8A encephalopathy: Research progress and prospects.
Article in Epilepsia, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.
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Who cites it
74 citing papers in PubMed, 133 citations in OpenAlex.
- Alternative splicing in voltage-gated sodium channels: mechanisms, regulatory networks and therapeutic implications.Annals of medicine · 2026Review
- Functional and pharmacological characterization of theEpilepsy & behavior reports · 2026Article
- Targeting Nav1.6: a promising strategy against cognitive impairment in maternal separation-sensitive mice.Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology · 2026Article
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- Editing Out Seizures? Base Editing Shows Promise for SCN8A DEE.Epilepsy currents · 2026Article
- Base editing rescues seizures and sudden death in a SCN8A mutation-associated developmental epileptic encephalopathy model.The Journal of clinical investigation · 2026Article
- Unraveling SUDEP: Mechanisms of Seizure-Induced Cardiac and Respiratory Impairment.Epilepsy currents · 2026Article
- Implication of genetic-dependent stage in the development ofFrontiers in human neuroscience · 2026Article
- Epilepsy: Bridging Epidemiological Landscapes, Molecular Mechanisms, and Emerging Precision Therapeutics.Neuropsychiatric disease and treatment · 2026Review
- Neurologist's Black Swan: Molecular Basis of Prenatal Seizures.International journal of molecular sciences · 2025Review
- Voltage-Gated Sodium Channel Dysfunction in Epilepsy: Zebrafish Models for Therapeutics.Biomedicines · 2025Review
- A research roadmap for SCN8A-related disorders: addressing knowledge gaps and aligning research priorities across stakeholders.Orphanet journal of rare diseases · 2025Article
- Article
- Deciphering the Natural History ofNeurology · 2025Article
- Implantation of Electroencephalogram and Electrocardiogram Telemetry Devices in Neonatal Rabbit Kits.Journal of visualized experiments : JoVE · 2025Article
- Neuronal hyperactivity in neurons derived from individuals with gray matter heterotopia.Nature communications · 2025Article
- Allele-Specific Editing of a Dominant SCN8A Epilepsy Variant Protects against Seizures and Lethality in a Murine Model.Annals of neurology · 2024Article
- Voltage-Gated Ion Channel Compensatory Effect in DEE: Implications for Future Therapies.Cells · 2024Review
- Dentate gyrus granule cells are a locus of pathology in Scn8a developmental encephalopathy.Neurobiology of disease · 2024Article
- WONOEP appraisal: Modeling early onset epilepsies.Epilepsia · 2024Review
14 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors at 13 institutions in 3 countries.
Funding
Abstract
On April 21, 2015, the first SCN8A Encephalopathy Research Group convened in Washington, DC, to assess current research into clinical and pathogenic features of the disorder and prepare an agenda for future research collaborations. The group comprised clinical and basic scientists and representatives of patient advocacy groups. SCN8A encephalopathy is a rare disorder caused by de novo missense mutations of the sodium channel gene SCN8A, which encodes the neuronal sodium channel Nav 1.6. Since the initial description in 2012, approximately 140 affected individuals have been reported in publications or by SCN8A family groups. As a result, an understanding of the severe impact of SCN8A mutations is beginning to emerge. Defining a genetic epilepsy syndrome goes beyond identification of molecular etiology. Topics discussed at this meeting included (1) comparison between mutations of SCN8A and the SCN1A mutations in Dravet syndrome, (2) biophysical properties of the Nav 1.6 channel, (3) electrophysiologic effects of patient mutations on channel properties, (4) cell and animal models of SCN8A encephalopathy, (5) drug screening strategies, (6) the phenotypic spectrum of SCN8A encephalopathy, and (7) efforts to develop a bioregistry. A panel discussion of gaps in bioregistry, biobanking, and clinical outcomes data was followed by a planning session for improved integration of clinical and basic science research. Although SCN8A encephalopathy was identified only recently, there has been rapid progress in functional analysis and phenotypic classification. The focus is now shifting from identification of the underlying molecular cause to the development of strategies for drug screening and prioritized patient care.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.