Article
Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles.
Annals of neurology - 1 Jul 2026
Domínguez-Carral Jana, Domínguez Cobo Ana María, Balsells Sol, Aguilar-Ros Anna, Chang Chu-Ting, Ludlam William G, Yang Kathryn, Bernardi Katerina, Chinigioli Micaela, Salazar-Villacorta Ainara, Di Pisa Veronica, Lamagrande-Casanova Nuria, González-Alguacil Elena, De la Casa-Fages Beatriz, Okumura Akihisa, Rodríguez Josefina, Agarwal Ayush, Muñoz-Chesta Daniela, Reynoso-Osnayo Carolina, Lin Amy, Tabarki Brahim, Parvin Jobaida, Gallo Adolfo Alberto, Forno Andreia, Maass Fabian, Montiel Blanco Johnny, Nasif Salomé, Jennions Elizabeth, Ramón-Gómez Jorge Luis, Verhelst Helene, Nieto Barceló Juan José, Čokolić Petrović Dunja, García Ruiz Luz Victoria, van Riesen Christoph, Rego Sousa Paulo, Massaro Sanchez Maria Del Pilar, Khan Husnea Ara, Hakami Wejdan, Friedman Jennifer, Espinoza-Quinteros Iván, Troncoso Monica, Garg Divyani, Pauni Micaela, Kurahashi Hirokazu, Miranda-Herrero María Concepción, Duat-Rodriguez Anna, Soliani Luca, Kurian Manju A, Schteinschnaider Angeles, Srivastava Siddharth, Ebrahimi-Fakhari Darius, Martemyanov Kirill A, Ortigoza-Escobar Juan Darío
Abstract excerpt
OBJECTIVE: Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1-related disorders (GNAO1-RD) to delineate phenotypic trajectories. METHODS: Sixty-six individuals with GNAO1-RD were included in a cross-sectional analysis....
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