CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, idiopathic partial epilepsy characterized by clusters of motor seizures occurring in sleep. We describe a mutation of the β2 subunit of the nicotinic acetylcholine receptor, effecting a V287M substitution within the M2 domai...

Full description

Saved in:
Bibliographic Details
Main Authors: Phillips, Hilary A., Favre, Isabelle, Kirkpatrick, Martin, Zuberi, Sameer M., Goudie, David, Heron, Sarah E., Scheffer, Ingrid E., Sutherland, Grant R., Berkovic, Samuel F., Bertrand, Daniel, Mulley, John C.
Format: Artigo
Language:Inglês
Published: The American Society of Human Genetics 2001
Subjects:
Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1234917/
https://ncbi.nlm.nih.gov/pubmed/11104662
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items