Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

@article{Scalmani2006EffectsIN,
  title={Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.},
  author={Paolo Scalmani and Raffaella Rusconi and Elena Armatura and F. Zara and G. Avanzini and Silvana Franceschetti and Massimo Mantegazza},
  journal={The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year={2006},
  volume={26 40},
  pages={10100-9}
}
Mutations of voltage-gated Na+ channels are the most common cause of familial epilepsy. Benign familial neonatal-infantile seizures (BFNIS) is an epileptic trait of the early infancy, and it is the only well characterized epileptic syndrome caused exclusively by mutations of Na(V)1.2 Na+ channels, but no functional studies of BFNIS mutations have been done. The comparative study of the functional effects and the elucidation of the pathogenic mechanisms of epileptogenic mutations is essential… CONTINUE READING

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A (2005a) Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures

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