Article
Mutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensitivity α4β2, and Increases α5α4β2, Nicotinic Receptor Surface Expression.
PloS one - 1 Jan 2016
Nichols Weston A, Henderson Brandon J, Marotta Christopher B, Yu Caroline Y, Richards Chris, Dougherty Dennis A, Lester Henry A, Cohen Bruce N
Abstract excerpt
A number of mutations in α4β2-containing (α4β2*) nicotinic acetylcholine (ACh) receptors (nAChRs) are linked to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), including one in the β2 subunit called β2V287L. Two α4β2* subtypes with different subunit stoichiometries and ACh sensitivities co-exist in the brain, a high-sensitivity subtype with (α4)2(β2)3 subunit stoichiometry and a low-sensitivity...
Topics
- Animals
- Brain
- Cell Membrane
- Epilepsy, Frontal Lobe
- Gene Expression Regulation
- HEK293 Cells
- Humans
- Mice
- Mutation
- Oocytes
- Patch-Clamp Techniques