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Title:

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.

Document type:
Article; Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Poggio, Elena; Barazzuol, Lucia; Salmaso, Andrea; Milani, Celeste; Deligiannopoulou, Adamantia; Cazorla, Ángeles García; Jang, Se Song; Juliá-Palacios, Natalia; Keren, Boris; Kopajtich, Robert; Lynch, Sally Ann; Mignot, Cyril; Moorwood, Catherine; Neuhofer, Christiane; Nigro, Vincenzo; Oostra, Anna; Prokisch, Holger; Saillour, Virginie; Schuermans, Nika; Torella, Annalaura; Verloo, Patrick; Yazbeck, Elise; Zollino, Marcella; Jech, Robert; Winkelmann, Juliane; Necpal, Jan; Calì, Tito; Brini, Mari...     »
Abstract:
PURPOSE: ATP2B2 encodes the variant-constrained plasma-membrane calcium-transporting ATPase-2, expressed in sensory ear cells and specialized neurons. ATP2B2/Atp2b2 variants were previously linked to isolated hearing loss in patients and neurodevelopmental deficits with ataxia in mice. We aimed to establish the association between ATP2B2 and human neurological disorders. METHODS: Multinational case recruitment, scrutiny of trio-based genomics data, in silico analyses, and functional variant char...     »
Journal title abbreviation:
Genet Med
Year:
2023
Journal volume:
25
Journal issue:
12
Fulltext / DOI:
doi:10.1016/j.gim.2023.100971
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/37675773
Print-ISSN:
1098-3600
TUM Institution:
Institut für Humangenetik (Prof. Winkelmann)
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