Article
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.
Brain : a journal of neurology - 7 Feb 2026
Quiroz Vicente, Alecu Julian E, Zubair Umar, Bernardi Katerina, Zaman Zainab, Rong Joshua, Tam Amy, Kunta Avaneesh, Agianda Habibah A P, Battaglia Nicole, Schmidt Henri J D, Resch Dario, Wyman Noah, Vogt Lindsey M, Uraba Wafa Bani, Becker Leonie F, Kothur Kavitha, Gill Deepak, Suarez Bernardita, Jofre Javiera I, Arias Carolina, Castiglioni Claudia, da Silva Möller Patricia Dumke, Pinto Duarte Andre Felipe, Eggers-Lisboa Alexander, Ríos-Pohl Loreto, Gonzalez-Ubilla Magdalena, Chaudhari Chinmay, Salazar-Villacorta Ainara, Tian Xiaojuan, Dai Lifang, Ding Changhong, Zamani Mina, Nourbakhsh Pardis, Shariati Gholamreza, Pringsheim Tamara, Lim Wei Kang, Bartolini Emanuele, Stamelou Maria, Bhatia Poonam, Kruer Michael C, Desai Soaham, Iype Mary, Necpál Ján, Crosiers David, Jones Hannah F, Perez-Sanchez Javier Ricardo, Unal Esra Demir, Lopez-Ariztegui Nuria, Kola Sruthi, Lin Wei-Sheng, Mansour Alia Hassan, Triki Chahnez Charfi, Fernandez-Alvarez Emilio, Roze Emmanuel, Sahu Jitendra Kumar, Doja Asif, Nardocci Nardo, Caputo Davide, Koy Anne, Bhate Sanjay, Kaliakatsos Marios, Robinson Robert, Hassell Jane, Pons Roser, Munchau Alexander, Soliani Luca, Zea-Vera Alonso, Tochen Laura, Morales-Briceño Hugo, Dale Russell C, D'Gama Alissa, Loddenkemper Tobias, Pearl Phillip L, Mohammad Shekeeb S, Kurian Manju A, Gorodetsky Carolina, Ortigoza-Escobar Juan Darío, Schierbaum Luca, Yang Kathryn, Ebrahimi-Fakhari Darius
Abstract excerpt
Epilepsy-dyskinesia syndromes (EDS) are a complex group of neurogenetic disorders characterized by the co-occurrence of epilepsy and movement disorders. Despite their increasing clinical recognition, the molecular and clinical spectrum of EDS remains poorly understood. While numerous genetic aetiologies have been implicated, systematic characterization across diverse populations is lacking. This study aimed to...
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