ArticleJournal of clinical neurology (Seoul, Korea)2018
Paroxysmal Dyskinesia in Children: from Genes to the Clinic.
Article in Journal of clinical neurology (Seoul, Korea), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Paroxysmal Dyskinesias in Paediatric Age: A Systematic Review.Journal of clinical medicine · 2025Review
- Long-term low-dose lamotrigine for paroxysmal kinesigenic dyskinesia: a two-year investigation of cognitive function in children.Frontiers in psychiatry · 2024Article
- Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report.BMC pediatrics · 2022Article
- Varied phenotypic spectrum presenting of paroxysmal exercise-induced dyskinesia: a Turkish family with SLC2A1 mutation.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
- The Spectrum ofFrontiers in neurology · 2021Review
- Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update. II. Hyperkinetic disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2019Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
background and purposeParoxysmal dyskinesia is a genetically and clinically heterogeneous movement disorder. Recent studies have shown that it exhibits both phenotype and genotype overlap with other paroxysmal disorders as well as clinical heterogeneity. We investigated the clinical and genetic characteristics of paroxysmal dyskinesia in children.
methodsFifty-five patients (16 from 14 families and 39 sporadic cases) were enrolled. We classified them into three phenotypes: paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and paroxysmal exercise-induced dyskinesia (PED). We sequenced
resultsForty patients were categorized as PKD, 14 as PNKD, and 1 as PED. Thirty-eight (69.1%) patients were male, and their age at onset was 8.80±4.53 years (mean±SD). Dystonia was the most common symptom (38 patients, 69.1%). Pathogenic variants were identified in 20 patients (36.4%): 18 with
conclusionsThis study has summarized the clinical and genetic heterogeneity of paroxysmal dyskinesia in children. We suggest that pediatric paroxysmal dyskinesia should not be diagnosed using clinical features alone, but by combining them with broader genetic testing.
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