ArticleNeurology. Genetics2018
Genetic landscape of pediatric movement disorders and management implications.
Article in Neurology. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- A Systematic Review of Cognitive and Behavioural Symptoms in CTNNB1 Syndrome.Neuropsychology review · 2026Pooled it
- Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.International journal of molecular sciences · 2022Pooled it
- Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- A Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report.International journal of molecular sciences · 2025Article
- Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.Movement disorders clinical practice · 2024Article
- Next-generation sequencing and bioinformatics in rare movement disorders.Nature reviews. Neurology · 2024Review
- Genetic Testing of Movements Disorders: A Review of Clinical Utility.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Review
- Translating Genetic Discovery into a Mechanistic Understanding of Pediatric Movement Disorders: Lessons from Genetic Dystonias and Related Disorders.Advanced genetics (Hoboken, N.J.) · 2023Article
- Article
- Ataxia in Neurometabolic Disorders.Metabolites · 2022Review
- Phenotypic and Genetic Complexity in Pediatric Movement Disorders.Frontiers in genetics · 2022Article
- Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.Frontiers in neurology · 2022Article
- First report of paternal uniparental disomy of chromosome 8 withFrontiers in genetics · 2022Article
- Clinical, radiological, and genetic characterization ofFrontiers in pediatrics · 2022Article
- Challenges in Clinicogenetic Correlations: One Phenotype - Many Genes.Movement disorders clinical practice · 2021Review
- Exome sequencing in paediatric patients with movement disorders.Orphanet journal of rare diseases · 2021Article
- Paroxysmal Movement Disorders.Frontiers in neurology · 2021Review
- Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.Frontiers in neurology · 2021Review
- Inherited Metabolic Disorders Presenting with Ataxia.International journal of molecular sciences · 2020Review
- Genetic background of ataxia in children younger than 5 years in Finland.Neurology. Genetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo identify underlying genetic causes in patients with pediatric movement disorders by genetic investigations.
methodsAll patients with a movement disorder seen in a single Pediatric Genetic Movement Disorder Clinic were included in this retrospective cohort study. We reviewed electronic patient charts for clinical, neuroimaging, biochemical, and molecular genetic features. DNA samples were used for targeted direct sequencing, targeted next-generation sequencing, or whole exome sequencing.
resultsThere were 51 patients in the Pediatric Genetic Movement Disorder Clinic. Twenty-five patients had dystonia, 27 patients had ataxia, 7 patients had chorea-athetosis, 8 patients had tremor, and 7 patients had hyperkinetic movements. A genetic diagnosis was confirmed in 26 patients, including in 20 patients with ataxia and 6 patients with dystonia. Targeted next-generation sequencing panels confirmed a genetic diagnosis in 9 patients, and whole exome sequencing identified a genetic diagnosis in 14 patients.
conclusionsWe report a genetic diagnosis in 26 (51%) patients with pediatric movement disorders seen in a single Pediatric Genetic Movement Disorder Clinic. A genetic diagnosis provided either disease-specific treatment or effected management in 10 patients with a genetic diagnosis, highlighting the importance of early and specific diagnosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.