SCN8A epileptic encephalopathy
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
SCN8A epileptic encephalopathy. This is caused by mutations of the SCN8A gene. Fully referenced neurology checklist.
Pathology
- This is caused by mutations of the SCN8A gene
- The gene encodes neuronal sodium channel Nav1.6
SCN8A gene phenotypes
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Modes of onset
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Seizure patterns
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Seizure types
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Other clinical features
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Magnetic resonance imaging (MRI) brain: features
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Treatments
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References
- Meisler MH, Helman G, Hammer MF, et al. SCN8A encephalopathy: research progress and prospects. Epilepsia 2016; 57:1027-1035.
- Gardella E, Marini C, Trivisano M, et al. The phenotype of SCN8A developmental and epileptic encephalopathy. Neurology 2018; 91:e1112-e1124.
- Johannesen KM, Gardella E, Encinas AC, et al. The spectrum of intermediate SCN8A-related epilepsy. Epilepsia 2019; 60:830-844.
- Denis J, Villeneuve N, Cacciagli P, et al. Clinical study of 19 patients with SCN8A-related epilepsy: two modes of onset regarding EEG and seizures. Epilepsia 2019; 60:845-856.
- Ohba C, Kato M, Takahashi S, et al. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia 2014; 55:994-1000.
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