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Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches

Sabine Illsinger, Georg Christoph Korenke, Sylvia Boesch, Michael Nocker, Daniela Karall, Jean‐Marc Nuoffer, Lucia Laugwitz, Johannes A. Mayr, Sabine Scholl‐Bürgi, Peter Freisinger, Tobias Kowald, Stefan Kölker, Holger Prokisch, Tobias B. Haack

2020European Journal of Medical Genetics23 citationsDOI

Topics & Concepts

DystoniaParoxysmal dyskinesiaMedicinePediatricsInternal medicinePsychiatryDyskinesiaDiseaseParkinson's diseaseDiet and metabolism studiesMetabolism and Genetic DisordersMitochondrial Function and Pathology
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches | Litcius