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...

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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.
Formato: Artigo
Idioma:Inglês
Publicado: The American Society of Human Genetics 2001
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1234917/
https://ncbi.nlm.nih.gov/pubmed/11104662
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