To do so, we used a clinically and experimentally validated database of genetic variants observed in our UK national congenital myasthenia referral service [24], containing 42 pathogenic variants (including RDS, SCS, and FCS variants), as well as 19 non-pathogenic variants of the nAChR (spanning all adult subunits). The gene discussed is CHRNA4; the disease is congenital myasthenic syndrome.