Genotype-phenotype correlations of stxbp1 pathogenic variants and the treatment

HIGHLIGHTS

  • who: Kessi et_al BMC Medical and colleagues from the choices for STXBP1-related disorders in China have published the article: Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment, in the Journal: (JOURNAL)
  • what: The authors aimed to analyze the genotype-phenotype correlations of STXBP1 pathogenic variants prognostic factors and the treatment choices in a case-series of STXBP1-related disorders from China. Univariate statistical analysis was carried out to compare different clinical variables (including age of onset, sex, EEG, brain imaging features, and severity of ID/GDD) among groups of the patients with . . .

     

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