Journal of Pediatric Neurology
DOI: 10.1055/s-0042-1756445
Case Report

Myoclonus-Dystonia in an Individual with a Mutation in the GRIN2A Gene

1   Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, United States
,
Trisha Multhaupt-Buell
1   Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, United States
,
Nutan Sharma
1   Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, United States
,
Marisela E. Dy-Hollins
1   Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, United States
› Author Affiliations

Abstract

Mutations in the GRIN2A gene are associated with epilepsy-aphasia spectrum disorders and developmental and epileptic encephalopathies. Associations have been linked with disorders, including autism spectrum disorder and Parkinson's disease. Recently, GRIN2A variants have been reported as a cause of movement disorders in individuals without epilepsy, suggesting that movement disorders should be highlighted as a genetic phenotype associated with pathogenic variants in GRIN2A. We present a case of a male with myoclonus dystonia and without epilepsy found on whole-exome sequencing to have a c.1880G > A; p.S627N variant in the GRIN2A gene. Our case contributes to the expanding phenotypic spectrum of GRIN2A-related disorders and highlights another genetic cause of the myoclonus-dystonia phenotype. GRIN2A should be considered a part of the differential diagnosis of myoclonus-dystonia in individuals with developmental delay without epilepsy.



Publication History

Received: 09 June 2022

Accepted: 30 June 2022

Article published online:
15 September 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany