Severe and progressive neurotransmitter release aberrations in familial hemiplegic migraine type 1 Cacna1a S218L knock-in mice.

@article{Kaja2010SevereAP,
  title={Severe and progressive neurotransmitter release aberrations in familial hemiplegic migraine type 1 Cacna1a S218L knock-in mice.},
  author={Simon Kaja and Rob C. G. van de Ven and Ludo A. M. Broos and Rune R. Frants and Marcella De Ferrari and Arn M J M van den Maagdenberg and Jaap J. Plomp},
  journal={Journal of neurophysiology},
  year={2010},
  volume={104 3},
  pages={
          1445-55
        }
}
Familial hemiplegic migraine type 1 (FHM1) is caused by mutations in the CACNA1A gene, encoding neuronal presynaptic Ca(V)2.1 (P/Q-type) Ca(2+) channels. These channels mediate neurotransmitter release at many central synapses and at the neuromuscular junction (NMJ). Mutation S218L causes a severe neurological phenotype of FHM and, additionally, ataxia and susceptibility to seizures, delayed brain edema, and fatal coma after minor head trauma. Recently, we generated a Cacna1a S218L knock-in… CONTINUE READING

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Trans-synaptic homeostasis at the myasthenic neuromuscular junction.

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Synaptic gain-of-function effects of mutant Cav2.1 channels in a mouse model of familial hemiplegic migraine are due to increased basal [Ca2+]i.

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