ArticleTremor and other hyperkinetic movements (New York, N.Y.)2014
Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion.
Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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.
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
10 citing papers in PubMed, 15 citations in OpenAlex.
- One case of acute encephalopathy associated with 16p11.2 deletion and PRRT2 gene mutation.BMC neurology · 2026Article
- Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Health supervision for children and adolescents with 16p11.2 deletion syndrome.Cold Spring Harbor molecular case studies · 2023Article
- Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features.Neurology. Genetics · 2022Article
- Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.Frontiers in molecular neuroscience · 2021Article
- Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.International journal of molecular sciences · 2020Review
- Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.Brain and behavior · 2020Article
- 16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability.Brain and behavior · 2018Article
- Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family.BMC medical genetics · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
backgroundFour cases of paroxysmal kinesigenic dyskinesia (PKD) have been reported in individuals with proximal 16p11.2 microdeletions that include PRRT2. CASE REPORT: We describe a fifth patient with PKD, features of Asperger's syndrome, and mild language delays. Sanger sequencing of the PRRT2 gene did not identify any mutations implicated in PKD. However, microarray-based comparative genomic hybridization (aCGH) detected a 533.9-kb deletion on chromosome 16, encompassing over 20 genes and transcripts. DISCUSSION: This case underscores the importance of aCGH testing for individuals with PKD who do not have PRRT2 mutations, particularly when developmental delays, speech problems, intellectual disability, and/or autism spectrum disorder are present.
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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.