ReviewCurrent neurology and neuroscience reports2009
Genetics of paroxysmal dyskinesias.
Review in Current neurology and neuroscience reports, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed, 29 citations in OpenAlex.
- Metabolic Shades of S-D-Lactoylglutathione.Antioxidants (Basel, Switzerland) · 2022Review
- Olfactory Neuroepithelium Cells from Cannabis Users Display Alterations to the Cytoskeleton and to Markers of Adhesion, Proliferation and Apoptosis.Molecular neurobiology · 2021Article
- A case of congenital myopathy masquerading as paroxysmal dyskinesia.Annals of Indian Academy of Neurology · 2014Article
- Episodic movement disorders: from phenotype to genotype and back.Current neurology and neuroscience reports · 2013Review
- Pathological laughter associated with paroxysmal kinesigenic dyskinesia: A rare presentation of acute disseminated encephalomyelitis.Epilepsy & behavior case reports · 2013Article
- The genetics of dystonias.Advances in genetics · 2012Review
- A canine BCAN microdeletion associated with episodic falling syndrome.Neurobiology of disease · 2012Article
- A case of mixed type of paroxysmal dyskinesia: is there an overlap between two clinical categories of paroxysmal dyskinesia?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2011Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Paroxysmal dyskinesias (PDs) are a heterogeneous group of disorders characterized by sudden attacks of involuntary movements that are mostly a combination of dystonia, chorea, athetosis, and ballism. They can sometimes be symptomatic, but usually an underlying cerebral lesion is not present. Most PDs have a genetic background and are divided into kinesigenic, nonkinesigenic, and exercise-induced forms. Recently, the first genes have been identified for paroxysmal nonkinesigenic dyskinesia (MR1) and paroxysmal exercise-induced dyskinesia (PED) (SLC2A1). Whereas the function of the MR-1 protein and the pathophysiology are still poorly understood, mutations in SLC2A1 and their functional characterization predict a reduced transport of glucose across the blood-brain barrier as the underlying mechanism of PED. A locus on chromosome 16 has been described for the kinesigenic forms, but the underlying genetic alterations are unknown. This review summarizes clinical symptoms of the PDs, imaging findings, therapeutic options, and the pathophysiologic background.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.