Gain‐of‐function ADCY5 mutations in familial dyskinesia with facial myokymia

Objective To identify the cause of childhood onset involuntary paroxysmal choreiform and dystonic movements in 2 unrelated sporadic cases and to investigate the functional effect of missense mutations in adenylyl cyclase 5 ( ADCY5 ) in sporadic and inherited cases of autosomal dominant familial d…