Besides, PCDH19 variants in two loci were identified in our research, and the p.Asn232Ser has been reported in previous cases of the clinical diagnosis of PCDH19-related epilepsy or Dravet syndrome with phenotype heterogeneity (3, 18–20, 33, 36). Here, PCDH19 is linked to encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy.