SCN8A epileptic encephalopathy
Evidence-based neurology checklist on scn8a epileptic encephalopathy: Pathology This is caused by mutations of the SCN8A gene The gene encodes neuronal sodium channel Nav1.6 SCN8A gene phenotypes Modes of onset Seizure patterns Seizure types Other clinical features Magnetic resonance imaging (MRI)…
Pathology
- This is caused by mutations of the SCN8A gene
- The gene encodes neuronal sodium channel Nav1.6
SCN8A gene phenotypes
Modes of onset
Seizure patterns
Seizure types
Other clinical features
Magnetic resonance imaging (MRI) brain: features
Treatments
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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