Nocturnal paroxysmal dystonia to sleep-related hypermotor epilepsy: A critical review.

Autor: Fotedar N; Epilepsy Center, Neurological Institute, University Hospitals Cleveland Medical Center, Cleveland, Ohio, USA.; Department of Neurology, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA., Lüders HO; Epilepsy Center, Neurological Institute, University Hospitals Cleveland Medical Center, Cleveland, Ohio, USA.; Department of Neurology, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.

Publikováno v: Epilepsia [Epilepsia] 2024 Sep; Vol. 65 (9), pp. 2506-2518. Date of Electronic Publication: 2024 Jul 24.

Short-term stimulations of the entopeduncular nucleus induce cerebellar changes of c-Fos expression in an animal model of paroxysmal dystonia

Autor: Lüttig, Anika, Perl, Stefanie, Zetsche, Maria, Richter, Franziska, Franz, Denise, Heerdegen, Marco, Köhling, Rüdiger, Richter, Angelika

Publikováno v: In Brain Research 15 January 2024 1823

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

Autor: Jessie Poquérusse, Melinda Nolan, David R. Thorburn, Johan L. K. Van Hove, Marisa W. Friederich, Donald R. Love, Juliet Taylor, Christopher A. Powell, Michal Minczuk, Russell G. Snell, Klaus Lehnert, Emma Glamuzina, Jessie C. Jacobsen

Publikováno v: JIMD Reports, Vol 64, Iss 3, Pp 223-232 (2023)

Abstract Disorders of mitochondrial function are a collectively common group of genetic diseases in which deficits in core mitochondrial translation machinery, including aminoacyl tRNA synthetases, are key players. Biallelic variants in the CARS2 gen

Externí odkaz: https://doaj.org/article/4f5342b87e7f4e589989796569d7e800

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

Autor: Illsinger, Sabine, Korenke, G. Christoph, Boesch, Sylvia, Nocker, Michael, Karall, Daniela, Nuoffer, Jean M., Laugwitz, Lucia, Mayr, Johannes A., Scholl-Bürgi, Sabine, Freisinger, Peter, Kowald, Tobias, Kölker, Stefan, Prokisch, Holger, Haack, Tobias B.

Publikováno v: In European Journal of Medical Genetics November 2020 63(11)