Movement disorder inGNAO1encephalopathy associated with gain-of-function mutations

OBJECTIVE: gene. METHODS: adrenergic receptor. RESULTS: LOF mutations are associated with epileptic encephalopathy while GOF mutants (such as G42R, G203R, and E246K) or normally functioning mutants (R209) were found in patients with movement disorders with or without seizures. CONCLUSIONS: ) are associated with neurologic pathophysiology. There appears to be a strong predictive correlation between the in vitro biochemical phenotype and the clinical pattern of epilepsy vs movement disorder.