NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?

Tremor Other Hyperkinet Mov (N Y). 2022 Jun 15:12:21. doi: 10.5334/tohm.696. eCollection 2022.

Abstract

Background: Variants of the NUS1 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: We report a case of myoclonus epilepsy, mild cerebellar ataxia, and ID due to a new de-novo NUS1 missense variant (c.868C>T, p.R290C), and review the current literature of NUS1-associated clinical phenotypes.

Discussion: Pathogenic variants of NUS1 are found in a rapidly growing number of cases diagnosed with myoclonus epilepsy and/or myoclonus-ataxia syndrome. NUS1 should be included in the genetic screening of undiagnosed forms of myoclonus, myoclonus-ataxia, and progressive myoclonus epilepsies.

Keywords: NUS1; ataxia; genetics; myoclonus; myoclonus epilepsy; myoclonus-ataxia.

Publication types

  • Case Reports

MeSH terms

  • Ataxia / genetics
  • Cerebellar Ataxia* / genetics
  • Epilepsies, Myoclonic*
  • Epilepsy* / complications
  • Epilepsy* / genetics
  • Humans
  • Intellectual Disability* / genetics
  • Myoclonus* / genetics
  • Receptors, Cell Surface

Substances

  • NUS1 protein, human
  • Receptors, Cell Surface