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| Verfasst von: | Akula, Shyam K. [VerfasserIn]  |
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| | Quiroz, Vicente [VerfasserIn] |
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| | D'Gama, Alissa M. [VerfasserIn] |
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| | Chiu, Michelle Y. [VerfasserIn] |
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| | Koh, Hyun Yong [VerfasserIn] |
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| | Saffari, Afshin [VerfasserIn] |
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| | Zaman, Zainab [VerfasserIn] |
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| | Tam, Amy [VerfasserIn] |
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| | Srouji, Rasha [VerfasserIn] |
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| | Valentine, Rozalia [VerfasserIn] |
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| | Wiltrout, Kimberly [VerfasserIn] |
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| | Pinto, Anna [VerfasserIn] |
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| | Harini, Chellamani [VerfasserIn] |
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| | Pearl, Phillip L. [VerfasserIn] |
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| | Poduri, Annapurna [VerfasserIn] |
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| | Ebrahimi-Fakhari, Darius [VerfasserIn] |
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| Titel: | The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome |
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| Verf.angabe: | 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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| E-Jahr: | 2024 |
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| Jahr: | May 6, 2024 |
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| Umfang: | 5 S. |
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| Fussnoten: | Gesehen am 14.03.2025 |
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| Titel Quelle: | Enthalten in: Annals of Clinical and Translational Neurology |
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| Ort Quelle: | Chichester [u.a.] : Wiley, 2013 |
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| Jahr Quelle: | 2024 |
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| Band/Heft Quelle: | 11(2024), 6, Seite 1643-1647 |
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| ISSN Quelle: | 2328-9503 |
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| 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. |
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| DOI: | doi:10.1002/acn3.52055 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.1002/acn3.52055 |
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| | DOI: https://doi.org/10.1002/acn3.52055 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | Child |
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| | Child, Preschool |
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| | Female |
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| | Homeodomain Proteins |
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| | Humans |
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| | Infant |
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| | Male |
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| | Movement Disorders |
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| | Mutation, Missense |
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| | Transcription Factors |
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| K10plus-PPN: | 1919840990 |
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| Verknüpfungen: | → Zeitschrift |
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¬The¬ spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome / Akula, Shyam K. [VerfasserIn]; May 6, 2024 (Online-Ressource)
