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preprint · PubMed

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

20259 citationsOpen accessAin Shams University Hospital

Abstract

related disease comprises an expanding continuum from infancy to adulthood, with early evidence of genotype-phenotype correlations. Except for laryngeal dysphonia, deep brain stimulation provides a significant improvement in quality of life and function with sustained clinical benefit depending on symptoms distribution.

Research topics

  • Neurological disorders and treatments
  • Genomics and Rare Diseases
  • Congenital heart defects research

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