SCN2A epileptic encephalopathy
Evidence-based neurology checklist on scn2a epileptic encephalopathy: Genetics and pathology This is caused by mutations in the SCN2A gene The gene encodes the voltage-gated sodium channel Nav1.2 Clinical phenotypes Clinical features Radiological features
Genetics and pathology
- This is caused by mutations in the SCN2A gene
- The gene encodes the voltage-gated sodium channel Nav1.2
Clinical phenotypes
Clinical features
Radiological features
References
- Wolff M, Johannesen KM, Hedrich UBS, et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain 2017; 140:1316-1336.
- Howell KB, McMahon JM, Carvill GL, et al. SCN2A encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures. Neurology 2015; 85:958-966.
- Zhou P, He N, Zhang JW, et al. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes Brain Behav 2018; doi: 10.1111/gbb.12456 (Epub ahead of print).
- Schwarz N, Hahn A, Bast T, et al. Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. J Neurol 2016; 263:334-343.
- Bamborschke D, Bendella Z, Allen M, et al. Neuroradiologic findings in patients with SCN2A disease: a systematic review and retrospective multicenter cohort study. Neurology 2026; 107:e218541.
