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The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome

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...

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Main Authors: Akula, Shyam K. (Author) , Quiroz, Vicente (Author) , D'Gama, Alissa M. (Author) , Chiu, Michelle Y. (Author) , Koh, Hyun Yong (Author) , Saffari, Afshin (Author) , Zaman, Zainab (Author) , Tam, Amy (Author) , Srouji, Rasha (Author) , Valentine, Rozalia (Author) , Wiltrout, Kimberly (Author) , Pinto, Anna (Author) , Harini, Chellamani (Author) , Pearl, Phillip L. (Author) , Poduri, Annapurna (Author) , Ebrahimi-Fakhari, Darius (Author)
Format: Article (Journal)
Language:English
Published: May 6, 2024
In: Annals of Clinical and Translational Neurology
Year: 2024, Volume: 11, Issue: 6, Pages: 1643-1647
ISSN:2328-9503
DOI:10.1002/acn3.52055
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1002/acn3.52055
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Author Notes:Shyam K. Akula, Vicente Quiroz, Alissa M. D'Gama, Michelle Y. Chiu, Hyun Yong Koh, Afshin Saffari, Zainab Zaman, Amy Tam, Rasha Srouji, Rozalia Valentine, Kimberly Wiltrout, Anna Pinto, Chellamani Harini, Phillip L. Pearl, Annapurna Poduri & Darius Ebrahimi-Fakhari
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Summary: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.
Item Description:Gesehen am 14.03.2025
Physical Description:Online Resource
ISSN:2328-9503
DOI:10.1002/acn3.52055

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