A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.

@article{Spampanato2004ANE,
  title={A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.},
  author={Jay Spampanato and Jennifer A Kearney and Georgius de Haan and Dyke P. McEwen and Andrew Escayg and Ildik{\'o} Aradi and Bryan T Macdonald and Stephen I. Levin and Ivan Soltesz and Paolo Benna and Elisa Montalenti and Lori L Isom and Alan L. Goldin and Miriam H. Meisler},
  journal={The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year={2004},
  volume={24 44},
  pages={10022-34}
}
A mutation in the sodium channel SCN1A was identified in a small Italian family with dominantly inherited generalized epilepsy with febrile seizures plus (GEFS+). The mutation, D1866Y, alters an evolutionarily conserved aspartate residue in the C-terminal cytoplasmic domain of the sodium channel alpha subunit. The mutation decreased modulation of the alpha subunit by beta1, which normally causes a negative shift in the voltage dependence of inactivation in oocytes. There was less of a shift… CONTINUE READING