ArticleJournal of medical genetics2012
Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.
Article in Journal of medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
What it found
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Who cites it
39 citing papers in PubMed, 91 citations in OpenAlex.
- PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.PloS one · 2012Trial
- Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2-Related Disorders.Annals of clinical and translational neurology · 2025Article
- Evaluating the Performance ofCombinatorial chemistry & high throughput screening · 2025Article
- Long-term low-dose lamotrigine for paroxysmal kinesigenic dyskinesia: a two-year investigation of cognitive function in children.Frontiers in psychiatry · 2024Article
- Article
- Elderly-Onset Paroxysmal Kinesigenic Dyskinesia: A Case Report.Neurology and therapy · 2022Article
- 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
- Levetiracetam-responsive paroxysmal exertional dyskinesia in a Welsh Terrier.Journal of veterinary internal medicine · 2021Article
- The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.Biomedicines · 2020Article
- Clinical features of patients with paroxysmal kinesigenic dyskinesia, mutation screening of PRRT2 and the effects of morning draughts of oxcarbazepine.BMC pediatrics · 2019Article
- The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.Movement disorders : official journal of the Movement Disorder Society · 2017Review
- Aberrant transcriptional networks in step-wise neurogenesis of paroxysmal kinesigenic dyskinesia-induced pluripotent stem cells.Oncotarget · 2016Article
- The next generation of target capture technologies - large DNA fragment enrichment and sequencing determines regional genomic variation of high complexity.BMC genomics · 2016Article
- Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.Chinese medical journal · 2016Article
- Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.Molecular neurobiology · 2016Article
- The clinical and genetic heterogeneity of paroxysmal dyskinesias.Brain : a journal of neurology · 2015Review
- Urine-derived induced pluripotent stem cells as a modeling tool for paroxysmal kinesigenic dyskinesia.Biology open · 2015Article
- PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.International journal of molecular sciences · 2015Article
- Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis.Experimental and therapeutic medicine · 2015Article
- Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations.Neuroscience bulletin · 2014Article
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundParoxysmal kinesigenic choreoathetosis (PKC) is characterised by recurrent and brief attacks of involuntary movement, inherited as an autosomal dominant trait with incomplete penetrance. A PKC locus has been previously mapped to the pericentromeric region of chromosome 16 (16p11.2-q12.1), but the causative gene remains unidentified. METHODS/
resultsDeep sequencing of this 30 Mb region enriched with array capture in five affected individuals from four Chinese PKC families detected two heterozygous PRRT2 insertions (c.369dupG and c.649dupC), producing frameshifts and premature stop codons (p.S124VfsX10 and p.R217PfsX8, respectively) in two different families. Sanger sequencing confirmed these two mutations and revealed a missense PRRT2 mutation (c.859G→A, p.A287T) in one of the two remaining families. This study also sequenced PRRT2 in 29 sporadic cases affected with PKC and identified mutations in 10 cases, including six with the c.649dupC mutation. Most variants were truncating mutations, consistent with loss-of-function and haploinsufficiency.
conclusionThe present study identifies PRRT2 as the gene mutated in a subset of PKC, and suggests that PKC is genetically heterogeneous.
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