ArticleAmerican journal of human genetics1999
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
34 citing papers in PubMed, 177 citations in OpenAlex.
- Paroxysmal kinesigenic dyskinesia: clinical report of 10 cases from three pedigrees with literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia.Heliyon · 2024Article
- TMEM151A variants associated with paroxysmal kinesigenic dyskinesia.Human genetics · 2023Article
- Exercise test for patients with new-onset paroxysmal kinesigenic dyskinesia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China.Translational neurodegeneration · 2021Review
- Paroxysmal Movement Disorders: Recent Advances.Current neurology and neuroscience reports · 2019Review
- Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Neuroscience and biobehavioral reviews · 2017Review
- Aberrant transcriptional networks in step-wise neurogenesis of paroxysmal kinesigenic dyskinesia-induced pluripotent stem cells.Oncotarget · 2016Article
- Thalamic involvement in paroxysmal kinesigenic dyskinesia: a combined structural and diffusion tensor MRI analysis.Human brain mapping · 2015Article
- Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis.Experimental and therapeutic medicine · 2015Article
- Genetics in dystonia: an update.Current neurology and neuroscience reports · 2013Review
- Episodic movement disorders: from phenotype to genotype and back.Current neurology and neuroscience reports · 2013Review
- Recent advances in the management of choreas.Therapeutic advances in neurological disorders · 2013Article
- A mutation hot-spot for benign infantile epilepsy.Epilepsy currents · 2013Article
- Genetic issues in the diagnosis of dystonias.Frontiers in neurology · 2013Article
- PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.Neurology · 2012Article
- Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.BMC neurology · 2012Article
- Multidrug resistance associated proteins in multidrug resistance.Chinese journal of cancer · 2012Review
- Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.Journal of medical genetics · 2012Article
- Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.Cell reports · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
24 authors at 10 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Paroxysmal kinesigenic choreoathetosis (PKC), the most frequently described type of paroxysmal dyskinesia, is characterized by recurrent, brief attacks of involuntary movements induced by sudden voluntary movements. Some patients with PKC have a history of infantile afebrile convulsions with a favorable outcome. To localize the PKC locus, we performed genomewide linkage analysis on eight Japanese families with autosomal dominant PKC. Two-point linkage analysis provided a maximum LOD score of 10.27 (recombination fraction [theta] =.00; penetrance [p] =.7) at marker D16S3081, and a maximum multipoint LOD score for a subset of markers was calculated to be 11.51 (p = 0.8) at D16S3080. Haplotype analysis defined the disease locus within a region of approximately 12.4 cM between D16S3093 and D16S416. P1-derived artificial chromosome clones containing loci D16S3093 and D16S416 were mapped, by use of FISH, to 16p11.2 and 16q12.1, respectively. Thus, in the eight families studied, the chromosomal localization of the PKC critical region (PKCR) is 16p11.2-q12.1. The PKCR overlaps with a region responsible for "infantile convulsions and paroxysmal choreoathetosis" (MIM 602066), a recently recognized clinical entity with benign infantile convulsions and nonkinesigenic paroxysmal dyskinesias.
Indexed as
Identifiers
What OpenQuestion holds
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.