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Molecular assay reagents intended to identify mutations in the cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal) (CHRNB2) gene, located at chromosome 1q21.3, which encodes for a subunit of a receptor that mediates fast signal transmission at synapses. Mutations at this locus have been identified in many patients with autosomal dominant nocturnal frontal lobe epilepsy type 3 (ADNFLE type 3) and other forms of epilepsy.
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