Emerging evidence of genotype-phenotype associations of developmental and epileptic encephalopathy due to kcnc2 mutation: identification of novel r405g

HIGHLIGHTS

  • who: Dan Sun from the Oregon State University, United States have published the article: Emerging evidence of genotype-phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G, in the Journal: (JOURNAL)
  • what: No significant brain lesions were found in both patients in this study, which may account for their better response to antileptic drugs (LEV/VPA were provided in both cases) to a certain extent, than patients with significant findings on brain imaging due to KCNC2-DEE (Rademacher et_al, 2020; Vetri et_al, 2020; Rydzanicz et_al, 2021; Schwarz et_al, 2022 . . .

     

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