Characterization of a novel missense mutation in the α2 subunit of the neuronal nicotinic acetylcholine receptor linked to sleep-related generalized seizures with cognitive deficit
Chiara Villa, Laura Clara Grandi, Valerio Conti, Simone Meneghini, Eleonora Giagnorio, Renzo Guerrini, Romina Combi, Andrea Becchetti · FENS Forum 2024
Aims: Mutations in the CHRNA4, CHRNB2, and CHRNA2 genes, respectively encoding the α4, β2 and α2 subunits of the neuronal nicotinic receptors (nAChRs) are linked to autosomal dominant sleep-related hypermotor epilepsy. The pathogenesis is uncertain, as different nAChR subunits exert complex physiological roles in the mature neocortex as well as during synaptogenesis.Methods: We generated different F2A-based tri-cistronic constructs for equimolar expression of α2/β4 nAChR subunits and carried out functional tests by patch-clamp recording on HEK 293 cells. Whole-cell currents were elicited by fa
ePoster · Neuroscience