ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV

ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity.

Source: Brain and Development - July 15, 2019 Category: Neurology Authors: Anna Ka-Yee Kwong, Vanessa Loi-Yan Chu, Richard J.T. Rodenburg, Jan Smeitink, Cheuk-Wing Fung Tags: Case Report Source Type: research