Pallidal Deep Brain Stimulation Response in Two Siblings with Atypical Adult-Onset Dystonia Related to a KMT2B Variant.

E Luque Buzo,B De la Casa-Fages,M González Sánchez,J R Pérez Sánchez,C Fernández Carballal,J Garbizu Vidorreta,O Mateo Sierra,A Contreras Chicote,F Grandas

Journal of the neurological sciences（2022）

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摘要

•Missense variants of uncertain significance in KMT2B may be related to a later dystonia onset in adulthood. •KMT2B related dystonia has a favourable response to GPi-DBS. •KMT2B related dystonia may present with cervical and axial predominant phenotype.

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Deep Brain Stimulation,Dystonia

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