Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy.

@article{Bertrand1998PropertiesON,
  title={Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy.},
  author={Sonia Bertrand and Steve T. Weiland and Samuel F. Berkovic and Ortrud K Steinlein and Daniel Bertrand},
  journal={British journal of pharmacology},
  year={1998},
  volume={125 4},
  pages={751-60}
}
1. Physiological and pharmacological properties of the human neuronal alpha4beta2 nicotinic AChR and mutants found in patients suffering from autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) were studied. 2. Investigations of nicotinic AChRs reconstituted in Xenopus oocytes with the control or mutated alpha4 subunits revealed that both mutation S248F as well as the Leucine insertion (776ins3) result in major but different changes in the physiological and pharmacological properties of… CONTINUE READING