Pallidal deep brain stimulation response in two siblings with atypical adult-onset dystonia related to a KMT2B variant


      • 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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