Article
Population Prevalence of Deleterious SGCE Variants.
Tremor and other hyperkinetic movements (New York, N.Y.) - 4 Nov 2020
LeDoux Mark S
Abstract excerpt
Background: Myoclonus-Dystonia (M-D) is a pleiotropic neuropsychiatric disorder of variable penetrance. Pathogenic variants in SGCE, a maternally imprinted gene, are the most frequent known genetic cause of M-D. The population prevalence of SGCE-linked M-D is unknown, the pathogenicity of SGCE variants identified in patients with M-D may be indeterminant, and SGCE variants predicted to be deleterious by in silico...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.