An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy.

@article{Steinlein1997AnIM,
  title={An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy.},
  author={Ortrud K Steinlein and Anne Karin Magnusson and Jens Stoodt and Sonia Bertrand and Steve T. Weiland and Sam F Berkovic and Karl Otto Nakken and P. Propping and Daniel C. Bertrand},
  journal={Human molecular genetics},
  year={1997},
  volume={6 6},
  pages={
          943-7
        }
}
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is the first, and to date only, idiopathic epilepsy for which a specific mutation has been found. A missense mutation in the critical M2 domain of the alpha4 subunit of the neuronal nicotinic acetylcholine receptor (CHRNA4) has been recently identified in one large Australian pedigree. Here we describe a novel mutation in the M2 domain of the CHRNA4 gene in a Norwegian family. Three nucleotides (GCT) were inserted at nucleotide… CONTINUE READING

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