A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy.

@article{Leniger2003ANC,
  title={A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy.},
  author={Tobias Leniger and Colette Kananura and Andreas Hufnagel and Sonia Bertrand and Daniel Bertrand and Ortrud K Steinlein},
  journal={Epilepsia},
  year={2003},
  volume={44 7},
  pages={
          981-5
        }
}
PURPOSE To identify and characterize the mutation(s) causing nocturnal frontal lobe epilepsy in a German extended family. METHODS Neuronal nicotinic acetylcholine receptor (nAChR) subunit genes were screened by direct sequencing. Once a CHRNA4 mutation was identified, its biophysical and pharmacologic properties were characterized by expression experiments in Xenopus oocytes. RESULTS We report a new CHRNA4 mutation, causing a alpha4-T265I amino acid exchange at the extracellular end of the… CONTINUE READING
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