Thomas Wirth, Emmanuel Roze, Clarisse Delvallée, Oriane Trouillard, Nathalie Drouot, Philippe Damier, Clotilde Boulay, Marine Bourgninaud, Prasanthi Jegatheesan, Aude Sangare, Sylvie Forlani, Bertrand Gaymard, Remi Hervochon, Vincent Navarro, Nadège Calmels, Audrey Schalk, Christine Tranchant, Amélie Piton, Aurélie Méneret, Mathieu Anheim
BACKGROUND: Although the group of paroxysmal kinesigenic dyskinesia (PKD) genes is expanding, the molecular cause remains elusive in more than 50% of cases. OBJECTIVE: The aim is to identify the missing genetic causes of PKD. METHODS: Phenotypic characterization, whole exome sequencing and association test were performed among 53 PKD cases. RESULTS: We identified four causative variants in KCNJ10, already associated with EAST syndrome (epilepsy, cerebellar ataxia, sensorineural hearing impairment and renal tubulopathy)...
March 4, 2024: Movement Disorders: Official Journal of the Movement Disorder Society