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

Elena Poggio, Lucia Barazzuol, Andrea Salmaso, Celeste Milani, Adamantia Deligiannopoulou, Ángeles García Cazorla, Se Song Jang, Natalia Juliá‐Palacios, Boris Keren, Robert Kopajtich, Sally Ann Lynch, Cyril Mignot, Catherine Moorwood, Christiane Neuhofer, Vincenzo Nigro, Anna Oostra, Holger Prokisch, Virginie Saillour, Nika Schuermans, Annalaura Torella, Patrick Verloo, Elise Yazbeck, Marcella Zollino, Robert Jech, Juliane Winkelmann, Ján Necpál, Tito Calí, Marisa Brini, Michael Zech

2023Genetics in Medicine21 citationsDOIOpen Access PDF

Topics & Concepts

Neurodevelopmental disorderMissense mutationAtaxiaDystoniaIntellectual disabilityEpilepsyFrameshift mutationLoss functionBiologyCopy-number variationPhenotypeGeneticsNeuroscienceHearing lossHypotoniaMedicineGeneAudiologyGenomeGenomics and Rare DiseasesDrug Transport and Resistance MechanismsIon Transport and Channel Regulation
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures | Litcius