Mario Sa
Guy's and St Thomas' NHS Foundation Trust
PediatricsParkinsonismStatus dystonicusDeep brain stimulationDystoniaDisease PresentationLaryngeal dystoniaBrain stimulationMedicineCohort
Publications 1
#1Laura CifH-Index: 24
#2Diane Demailly (University of Montpellier)H-Index: 3
Last. Manju A. Kurian (GOSH: Great Ormond Street Hospital)H-Index: 42
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Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal and cervical involvement. Although KMT2B-related disease is emerging as one of the most common causes of early-onset genetic dystonia, much remains to be understood about the full spec...
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