Sodium channel SCN1A and epilepsy: mutations and mechanisms.

@article{Escayg2010SodiumCS,
  title={Sodium channel SCN1A and epilepsy: mutations and mechanisms.},
  author={Andrew Escayg and Alan L. Goldin},
  journal={Epilepsia},
  year={2010},
  volume={51 9},
  pages={1650-8}
}
Mutations in a number of genes encoding voltage-gated sodium channels cause a variety of epilepsy syndromes in humans, including genetic (generalized) epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS, severe myoclonic epilepsy of infancy). Most of these mutations are in the SCN1A gene, and all are dominantly inherited. Most of the mutations that cause DS result in loss of function, whereas all of the known mutations that cause GEFS+ are missense, presumably altering channel… CONTINUE READING
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