ReviewInternational journal of molecular sciences2020
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
Review in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.
- Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Pooled it
- Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Navigating diagnostic overlap between seizures and movement disorders: A practical clinical approach.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- CLCN2-Related Leukoencephalopathy Presenting as Isolated Paroxysmal Non-Kinesigenic Dyskinesia: Clinical, Imaging, and Genetic Correlations.Journal of movement disorders · 2026Article
- Rare Movement Disorders-An Approach for Clinicians.International journal of molecular sciences · 2025Review
- Pediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options.Life (Basel, Switzerland) · 2025Review
- Insights on the Shared Genetic Landscape of Neurodevelopmental and Movement Disorders.Current neurology and neuroscience reports · 2025Review
- Evaluating the Performance ofCombinatorial chemistry & high throughput screening · 2025Article
- Paroxysmal Non-Kinesigenic Dyskinesias Associated with Biallelic POLG Variants: A Case Report.Movement disorders : official journal of the Movement Disorder Society · 2024Article
- Article
- Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment.Current issues in molecular biology · 2024Review
- Alternating hemiplegia of childhood misdiagnosed as hysteria: a case report.Acta epileptologica · 2024Article
- Hospitalisations related to nervous-system diseases in Australia, 1998-2019: a secular trend analysis.BMJ open · 2023Article
- Early Onset Paroxysmal Dyskinesia in PRRT2-Related Disorders.Movement disorders clinical practice · 2023Article
- Ataxias: Hereditary, Acquired, and Reversible Etiologies.Seminars in neurology · 2023Article
- Genetic Links to Episodic Movement Disorders: Current Insights.The application of clinical genetics · 2023Review
- Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants.Molecular genetics and metabolism reports · 2022Article
- Transient benign paroxysmal movement disorders in infancy.Revista de neurologia · 2022Review
- Interictal Headache, Pseudodystonia, and Persistent Ataxia in Episodic Ataxia Type 1 Due to a Novel KCNA1 Gene Mutation.Movement disorders clinical practice · 2022Article
- Identification of Genetic Networks Reveals Complex Associations and Risk Trajectory Linking Mild Cognitive Impairment to Alzheimer's Disease.Frontiers in aging neuroscience · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Paroxysmal movement disorders (PMDs) are rare neurological diseases typically manifesting with intermittent attacks of abnormal involuntary movements. Two main categories of PMDs are recognized based on the phenomenology: Paroxysmal dyskinesias (PxDs) are characterized by transient episodes hyperkinetic movement disorders, while attacks of cerebellar dysfunction are the hallmark of episodic ataxias (EAs). From an etiological point of view, both primary (genetic) and secondary (acquired) causes of PMDs are known. Recognition and diagnosis of PMDs is based on personal and familial medical history, physical examination, detailed reconstruction of ictal phenomenology, neuroimaging, and genetic analysis. Neurophysiological or laboratory tests are reserved for selected cases. Genetic knowledge of PMDs has been largely incremented by the advent of next generation sequencing (NGS) methodologies. The wide number of genes involved in the pathogenesis of PMDs reflects a high complexity of molecular bases of neurotransmission in cerebellar and basal ganglia circuits. In consideration of the broad genetic and phenotypic heterogeneity, a NGS approach by targeted panel for movement disorders, clinical or whole exome sequencing should be preferred, whenever possible, to a single gene approach, in order to increase diagnostic rate. This review is focused on clinical and genetic features of PMDs with the aim to (1) help clinicians to recognize, diagnose and treat patients with PMDs as well as to (2) provide an overview of genes and molecular mechanisms underlying these intriguing neurogenetic disorders.
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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.