Exome sequencing in paediatric patients with movement disorders
Kwong AK, Tsang MH, Fung JL, Mak CC, Chan KL, Rodenburg RJT, Lek M, Huang S, Pajusalu S, Yau MM, Tsoi C, Fung S, Liu KT, Ma CK, Wong S, Yau EK, Tai SM, Fung EL, Wu NS, Tsung LY, Smeitink J, Chung BH, Fung CW. Exome sequencing in paediatric patients with movement disorders. Orphanet Journal Of Rare Diseases 2021, 16: 32. PMID: 33446253, PMCID: PMC7809769, DOI: 10.1186/s13023-021-01688-6.Peer-Reviewed Original ResearchMeSH KeywordsChildDystonic DisordersExomeExome SequencingGTP-Binding Protein alpha Subunits, Gi-GoHumansMovement DisordersMutationProteinsSodium-Potassium-Exchanging ATPaseSpastinConceptsMovement disordersWhole-exome sequencingPediatric patientsPotential treatment implicationsGlobus pallidus interna deep brain stimulationGenetic diagnosisExome sequencingTreatment implicationsDeep brain stimulationEffective clinical managementHeterogeneous neurological diseasesClinical improvementHypokinetic disordersClinical managementDiagnostic yieldHyperkinetic disorderDisease-causing variantsBrain stimulationPatientsNeurological diseasesCohortDisordersDiagnosisGenetic etiologyPrecision medicine