NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?
Tremor Other Hyperkinet Mov (N Y)
; 12: 21, 2022.
Article
em En
| MEDLINE
| ID: mdl-35949226
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxia Cerebelar
/
Epilepsias Mioclônicas
/
Epilepsia
/
Deficiência Intelectual
/
Mioclonia
Limite:
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article