We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
The spectrum of movement disorders in young children with ARX‐related epilepsy‐dyskinesia syndrome.
- Authors
Akula, Shyam K.; Quiroz, Vicente; D'Gama, Alissa M.; Chiu, Michelle Y.; Koh, Hyun Yong; Saffari, Afshin; Zaman, Zainab; Tam, Amy; Srouji, Rasha; Valentine, Rozalia; Wiltrout, Kimberly; Pinto, Anna; Harini, Chellamani; Pearl, Phillip L.; Poduri, Annapurna; Ebrahimi‐Fakhari, Darius
- Abstract
Children with developmental and epileptic encephalopathies often present with co‐occurring dyskinesias. Pathogenic variants in ARX cause a pleomorphic syndrome that includes infantile epilepsy with a variety of movement disorders ranging from focal hand dystonia to generalized dystonia with frequent status dystonicus. In this report, we present three patients with severe movement disorders as part of ARX‐associated epilepsy‐dyskinesia syndrome, including a patient with a novel pathogenic missense variant (p.R371G). These cases illustrate diagnostic and management challenges of ARX‐related disorder and shed light on broader challenges concerning epilepsy‐dyskinesia syndromes.
- Subjects
MOVEMENT disorders; FOCAL dystonia; MISSENSE mutation; SYNDROMES; CHILDREN with epilepsy; DYSKINESIAS
- Publication
Annals of Clinical & Translational Neurology, 2024, Vol 11, Issue 6, p1643
- ISSN
2328-9503
- Publication type
Case Study
- DOI
10.1002/acn3.52055