ArticleChinese medical journal2016
Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.
Article in Chinese medical journal, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 25 citations in OpenAlex.
- Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients WithHuman mutation · 2026Article
- Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms.Neuroscience bulletin · 2024Review
- 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
- Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA.Journal of human genetics · 2021Article
- Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China.Translational neurodegeneration · 2021Review
- Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.CNS neuroscience & therapeutics · 2020Article
- 16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability.Brain and behavior · 2018Article
- Paroxysmal Dyskinesia in Children: from Genes to the Clinic.Journal of clinical neurology (Seoul, Korea) · 2018Article
- Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.Annals of clinical and translational neurology · 2018Review
- Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia.Journal of movement disorders · 2018Article
- Depression, anxiety, and quality of life in paroxysmal kinesigenic dyskinesia patients.Chinese medical journal · 2017Article
- Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants.Chinese medical journal · 2016Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundParoxysmal kinesigenic dyskinesia (PKD) is the most common subtype of paroxysmal dyskinesias and is caused by mutations in PRRT2 gene. The majority of familial PKD was identified to harbor PRRT2 mutations. However, over two-third of sporadic PKD patients did not carry anyPRRT2 mutation, suggesting an existence of additional genetic mutations or possible misdiagnosis due to clinical overlap.
methodsA cohort of 28 Chinese patients clinically diagnosed with sporadic PKD and excluded PRRT2 mutations were recruited. Clinical features were evaluated, and all subjects were screened for MR-1, SLC2A1, and CLCN1 genes, which are the causative genes of paroxysmal nonkinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia, and myotonia congenita (MC), respectively. In addition, 200 genetically matched healthy individuals were recruited as controls.
resultsA total of 16 genetic variants including 4 in MR-1 gene, 8 in SLC2A1 gene, and 4 in CLCN1 gene were detected. Among them, SLC2A1 c.363G>A mutation was detected in one case, and CLCN1 c.1205C>T mutation was detected in other two cases. Neither of them was found in 200 controls as well as 1000 Genomes database and ExAC database. Both mutations were predicted to be pathogenic by SIFT and PolyPhen2. The SLC2A1 c.363G>A mutation was novel.
conclusionsThe phenotypic overlap may lead to the difficulty in distinguishing PKD from PNKD and MC. For those PRRT2- negative PKD cases, screening of SLC2A1 and CLCN1 genes are useful in confirming the diagnosis.
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