Mutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensitivity α4β2, and Increases α5α4β2, Nicotinic Receptor Surface Expression.
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...
Main Authors: | Weston A Nichols, Brandon J Henderson, Christopher B Marotta, Caroline Y Yu, Chris Richards, Dennis A Dougherty, Henry A Lester, Bruce N Cohen |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2016-01-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC4918917?pdf=render |
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