| Literature DB >> 15309115 |
Abstract
The identification of a genetically transmissible form of epilepsy that is associated with a mutation in CHRNA4, the gene that encodes the alpha4 subunit of the high-affinity nicotinic acetylcholine receptor, was the first demonstration that an alteration in a ligand-gated ion channel can cause seizures. Since then, nine mutations have been found, and analysis of their physiologic properties has revealed that all of them enhance receptor function.Entities:
Year: 2002 PMID: 15309115 PMCID: PMC321143 DOI: 10.1111/j.1535-7597.2002.00072.x
Source DB: PubMed Journal: Epilepsy Curr ISSN: 1535-7511 Impact factor: 7.872