SCN3A related epileptic encephalopathy
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
SCN3A related epileptic encephalopathy. This is caused by mutations in the SCN3A gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the SCN3A gene
- The gene encodes the voltage‐gated sodium channel subunit Nav1.3
Clinical features
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Magnetic resonance imaging (MRI) brain: features
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References
- Zaman T, Helbig KL, Clatot J, et al. SCN3A-related neurodevelopmental disorder: a spectrum of epilepsy and brain malformation. Ann Neurol 2020 (Online ahead of print).
- Smith RS, Kenny CJ, Ganesh V, et al. Sodium channel SCN3A (NaV1.3) regulation of human cerebral cortical folding and oral motor development. Neuron 2018; 99:905-913.e7.
- Lamar T, Vanoye CG, Calhoun J, et al. SCN3A deficiency associated with increased seizure susceptibility. Neurobiol Dis 2017; 102:38-48.
