Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation.

@article{Kahlig2006ImpairedIG,
  title={Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation.},
  author={Kristopher M. Kahlig and Sunita N. Misra and Alfred L. George},
  journal={The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year={2006},
  volume={26 43},
  pages={
          10958-66
        }
}
  • Kristopher M. Kahlig, Sunita N. Misra, Alfred L. George
  • Published in
    The Journal of neuroscience…
    2006
  • Biology, Medicine
  • Mutations in SCN1A (encoding the neuronal voltage-gated sodium channel alpha1 subunit, Na(V)1.1, or SCN1A) are associated with genetic epilepsy syndromes including generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy. Here, we present the formulation and use of a computational model for SCN1A to elucidate molecular mechanisms underlying the increased persistent sodium current exhibited by the GEFS+ mutant R1648H. Our model accurately reproduces all… CONTINUE READING

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