ArticleBMC neurology2012
Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.
Article in BMC neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 25 citations in OpenAlex.
- Article
- Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia.Neuroscience · 2020Article
- Novel mutation of theBiomedical reports · 2020Article
- A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion.Behavioural neurology · 2020Article
- Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa.Tremor and other hyperkinetic movements (New York, N.Y.) · 2019Article
- Genetic and epigenetic mechanisms of epilepsy: a review.Neuropsychiatric disease and treatment · 2017Review
- Aberrant transcriptional networks in step-wise neurogenesis of paroxysmal kinesigenic dyskinesia-induced pluripotent stem cells.Oncotarget · 2016Article
- The clinical and genetic heterogeneity of paroxysmal dyskinesias.Brain : a journal of neurology · 2015Review
- Molecular analysis of PRRT2 gene in a case of paroxysmal kinesigenic dyskinesia patient.Annals of Indian Academy of Neurology · 2014Article
- Recent advances in the genetics of dystonia.Current neurology and neuroscience reports · 2014Review
- IFITMs restrict the replication of multiple pathogenic viruses.Journal of molecular biology · 2013Review
- Primary and secondary dystonic syndromes: an update.Current opinion in neurology · 2013Review
- The genetics of dystonia: new twists in an old tale.Brain : a journal of neurology · 2013Review
- Clinical analysis of nine cases of paroxysmal exercise-induced dystonia.Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban · 2012Article
Corrections and comments
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Authors and funding
6 authors at 5 institutions in 3 countries.
Funding
Abstract
backgroundRecently, heterozygous mutations in PRRT2 (Chr 16p11.2) have been identified in Han Chinese, Japanese and Caucasians with paroxysmal kinesigenic dyskinesia. In previous work, a paroxysmal kinesigenic dyskinesia locus was mapped to Chr 16p11.2 - q11.2 in a multiplex African-American family.
methodsSanger sequencing was used to analyze all four PRRT2 exons for sequence variants in 13 probands (9 Caucasian, 1 Caucasian-Thai, 1 Vietnamese and 2 African-American) with some form of paroxysmal dyskinesia.
resultsOne patient of mixed Caucasian-Thai background and one African-American family harbored the previously described hotspot mutation in PRRT2 (c.649dupC, p.R217Pfs*8). Another African-American family was found to have a novel mutation (c.776dupG, p.E260*). Both of these variants are likely to cause loss-of-function via nonsense-mediated decay of mutant PRRT2 transcripts. All affected individuals had classic paroxysmal kinesigenic dyskinesia phenotypes.
conclusionsHeterozygous PRRT2 gene mutations also cause paroxysmal kinesigenic dyskinesia in African-Americans. The c.649dupC hotspot mutation in PRRT2 is common across racial groups.
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