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To date five mutations in two major constituents of neuronal nicotinic acetylcholine receptor (nAChR) in the brain, i.e. α4 and β2 subunits, have been identified to be associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Among them, only Ser284Leu, a point mutation in α4 subunit identified in ADNFLE as well as in a sporadic case with nocturnal frontal lobe epilepsy, remains...
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