Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects.

@article{Cestle2013NonfunctionalNF,
  title={Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects.},
  author={Sandrine Cest{\`e}le and Emanuele Schiavon and Raffaella Rusconi and Silvana Franceschetti and Massimo Mantegazza},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2013},
  volume={110 43},
  pages={17546-51}
}
Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura. Mutations causing FHM type 3 have been identified in SCN1A, the gene encoding the Nav1.1 Na(+) channel, which is also a major target of epileptogenic mutations and is particularly important for the excitability of GABAergic neurons. However, functional studies of NaV1.1 FHM mutations have generated controversial results. In particular, it has been shown that the NaV1.1-L1649Q mutant is nonfunctional when expressed in a… CONTINUE READING
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