NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?
Giulietta Riboldi, Edoardo Monfrini, Christine E. Stahl, Steven J. Frucht
Abstract
Background: gene have recently been linked to a spectrum of phenotypes including epilepsy, cerebellar ataxia, cortical myoclonus and intellectual disability (ID), and primary congenital defects of glycosylation. Case Report: -associated clinical phenotypes. Discussion: should be included in the genetic screening of undiagnosed forms of myoclonus, myoclonus-ataxia, and progressive myoclonus epilepsies.
Topics & Concepts
MyoclonusProgressive myoclonus epilepsyAtaxiaEpilepsyMedicineMissense mutationCerebellar ataxiaNeurosciencePediatricsPhenotypePsychologyPsychiatryGeneticsBiologyGeneGenetics and Neurodevelopmental DisordersRNA and protein synthesis mechanismsGenetic Neurodegenerative Diseases