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Table 3 Previous studies investigating underlying genetic causes in patient cohorts with movement disorders

From: Exome sequencing in paediatric patients with movement disorders

  Neveling et al. [13] Van Egmond et al. [14] Reale et al. [17] Montaut et al. [16] Cordeiro et al. [19] Graziola et al. [15] The present study
Country of patient recruitment The Netherlands The Netherlands Italy France, Luxembourg and Algeria Canada Italy Hong Kong SAR, China
No. of patients with MDs 50 61 (all with dystonia) 221 378 51 148 31
Onset age Adult and paediatric Adult and paediatric Adult and paediatric Adult and paediatric Paediatric Paediatric Paediatric
No. of young-onset MDs Not specified 44 Not specified Not specified 51 148 31
Sequencing methods Whole exome sequencing and target data analysis Next generation sequencing and gene panel analysis Targeted next generation sequencing Targeted next generation sequencing Targeted direct, targeted next generation or whole exome sequencing Targeted next generation sequencing Whole exome sequencing with both targeted and exome wide analysis. One variant was identified by Sanger sequencing
No. of genes in panel 151 94 65 127 102
Diagnostic yield 20% (10/50) 14.8% (9/61) 11.31% (25/221) 22% (83/378) 51% (26/51) 28% (42/148) 32% (10/31)
Treatment implications 38% of patients with a genetic diagnosis 80% of patients with genetic diagnosis