Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis
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DOI: 10.1186/s13023-020-01594-3
Abstract: Background GNAO1 encephalopathy is a rare neurodevelopmental disorder characterized by distinct movement presentations and early onset epileptic encephalopathy. Here, we report the in-depth phenotyping of genetically confirmed patients with GNAO1 encephalopathy, focusing on movement presentations.… read more here.
Keywords: movement; gnao1 encephalopathy; case; spectrum movement ... See more keywords