Title : CHRNA2 and Nocturnal Frontal Lobe Epilepsy: Identification and Characterization of a Novel Loss of Function Mutation.

Pub. Date : 2019

PMID : 30809122






1 Functional Relationships(s)
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1 The mutation reduced the maximal currents by approximately 80% in response to saturating concentrations of nicotine in homo- and heterozygous form, in both the alpha2beta4 and alpha2beta2 nAChR subtypes. Nicotine cholinergic receptor nicotinic alpha 4 subunit Homo sapiens