Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
Miryam CarecchioFederica InvernizziPaulina Gonzàlez-LatapiCeleste PanteghiniGiovanna ZorziLuigi Michele RomitoVincenzo LeuzziSerena GalosiChiara RealeFederica ZibordiAgnel P JosephMaya TopfCarla PianoAnna Rita BentivoglioFloriano GirottiPaolo MoranaBenedetto MoranaManju A KurianBarbara GaravagliaNiccolò E MencacciSteven J LubbeNardo NardocciPublished in: Movement disorders : official journal of the Movement Disorder Society (2019)
KMT2B mutations are frequent in childhood-onset dystonia and cause a complex neurodevelopmental syndrome, often featuring growth retardation and intellectual disability as additional phenotypic features. A dramatic and long-lasting response to DBS is characteristic of DYT-KMT2B dystonia. © 2019 International Parkinson and Movement Disorder Society.