Article
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
Annals of neurology - 1 Sept 2025
Brooker Sarah M, Novelli Maria, Coukos Robert, Prakash Neha, Kamel Walaa A, Amengual-Gual Marta, Anheim Mathieu, Barcia Giulia, Bardakjian Tanya, Baur Franciska, Berweck Steffen, Bölsterli Bigna K, Brugger Melanie, Cassini Thomas, Chatron Nicolas, Corner Brian, Dafsari Hormos Salimi, de Sainte Agathe Jean-Madeleine, Ellis Colin A, Ezell Kimberly M, Foucard Cendrine, Frucht Steven J, Garcia Maria C, Gill Deepak, Guimier Anne, Hamid Rizwan, Heine-Suñer Damià, Herkenrath Peter, Hully Marie, Isaias Ioannis U, Januel Louis, Laurencin Chloe, Laut Taylor, Lavillaureix Alinoe, Lesca Gaetan, Lesieur-Sebellin Marion, Magistrelli Luca, Marelli Cecilia, Mefford Heather C, Mendelsohn Bryce A, Mercimek-Andrews Saadet, Miller Claire, Mohammad Shekeeb S, Morgante Francesca, Nandipati Sirisha, Opladen Thomas, Padmanaban Mahesh, Pauni Micaela, Pezzoli Gianni, Piton Amelie, Ramond Francis, Riboldi Giulietta M, Rougeot-Jung Christelle, Santos-Simarro Fernando, Scheffer Ingrid E, Serari Naoual, Stahl Christine M, Kung Ann Stembridge, Tarongí Sanchez Susana, Thauvin-Robinet Christel, Till Marianne, Tranchant Christine, Troedson Christopher, Tropea Thomas F, Vanakker Olivier, Vega Patricia, Wiese Maxi Leona, Wieshmann Udo, Williams Laura J, Wirth Thomas, Zech Michael, Zempel Hans, Roze Emmanuel, Leuzzi Vincenzo, Galosi Serena, Fung Victor S C, Carvill Gemma, Krainc Dimitri, Gerard Elizabeth, Mencacci Niccolò E
Abstract excerpt
OBJECTIVE: A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss-of-function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation and the details of the associated epilepsy and movement...
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