Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations

Conclusions:
Both LOF and GOF mutations in Gαo (encoded by GNAO1) 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.

Source: Neurology - August 21, 2017 Category: Neurology Authors: Feng, H., Sjögren, B., Karaj, B., Shaw, V., Gezer, A., Neubig, R. R. Tags: Chorea, Gene expression studies, Infantile spasms ARTICLE Source Type: research