Article
The juvenile myoclonic epilepsy GABA(A) receptor alpha1 subunit mutation A322D produces asymmetrical, subunit position-dependent reduction of heterozygous receptor currents and alpha1 subunit protein expression.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 16 Jun 2004
Gallagher Martin J, Song Luyan, Arain Fazal, Macdonald Robert L
Abstract excerpt
Individuals with autosomal dominant juvenile myoclonic epilepsy are heterozygous for a GABA(A) receptor alpha1 subunit mutation (alpha1A322D). GABA(A) receptor alphabetagamma subunits are arranged around the pore in a beta-alpha-beta-alpha-gamma sequence (counterclockwise from the synaptic cleft). Therefore, each alpha1 subunit has different adjacent subunits, and heterozygous expression of alpha1(A322D), beta,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.