Nicotinic acetylcholine receptor mutations

作者：Steinlein Ortrud K^*; Kaneko Sunao; Hirose Shinichi

来源：Epilepsia, 2010, 51: 65-65.

DOI：10.1111/j.1528-1167.2010.02851.x

• ADNFLE
• Channel subunits
• Epilepsy
• Gain of function mutations
• nAChR
• Seizures

P>Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of brief motor seizures. This rare syndrome is caused by mutations in at least two subunit genes of the neuronal nicotinic acetylcholine receptor (nAChR). Some of these mutations seem to increase the risk for additional neurologic symptoms. For an expanded treatment of this topic see Jasper's Basic Mechanisms of the Epilepsies, Fourth Edition (Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds) published by Oxford University Press (available on the National Library of Medicine Bookshelf [NCBI] at http://www.ncbi.nlm.nih.gov/books).

• 出版日期2010-12