SCN3A related epileptic encephalopathy

Evidence-based neurology checklist on scn3a related epileptic encephalopathy: Genetics This is caused by mutations in the SCN3A gene The gene encodes the voltage‐gated sodium channel subunit Nav1.3 Clinical features Magnetic resonance imaging (MRI) brain: features

Genetics

  • This is caused by mutations in the SCN3A gene
  • The gene encodes the voltage‐gated sodium channel subunit Nav1.3

Clinical features

Magnetic resonance imaging (MRI) brain: features

References

  1. 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).
  2. 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.
  3. Lamar T, Vanoye CG, Calhoun J, et al. SCN3A deficiency associated with increased seizure susceptibility. Neurobiol Dis 2017; 102:38-48.

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