Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.
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DOI: 10.1016/j.ejmg.2020.104046
Abstract: BACKGROUND ECHS1 encodes the mitochondrial short chain enoyl CoA hydratase 1 (SCEH). Biallelic ECHS1 variants have been associated with Leigh-like presentations and milder phenotypes with paroxysmal exercise-induced dystonia. PATIENTS/METHODS We used exome sequencing to investigate… read more here.
Keywords: paroxysmal dystonia; non paroxysmal; dystonia; paroxysmal non ... See more keywords