Читать книгу Neurology - Charles H. Clarke - Страница 93

At the neuromuscular junction ACh opens nicotinic receptors made up of α1, β1, δ and ε subunits, encoded by CHRNA1, CHRNB1, CHRND and CHRNE. Mutations of these subunits can cause a congenital myasthenic syndrome.

Of the receptor subunits expressed in the CNS, mutations have been identified in CHRNA4, CHRNA2 and CHRNB2 (encoding the α4, α2 and β2 subunits, respectively) in autosomal dominant nocturnal frontal lobe epilepsy. CNS nicotinic receptors mediate fast excitatory transmission to a subset of cortical interneurones. How mutations give rise to epilepsy remains unclear.