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Rates of rare copy number variants in different circumstances among patients with genetic developmental and epileptic encephalopathy.

Sanghoon LeeBo Ram KimYoung Ok Kim
Published in: Science progress (2022)
The rate of rare CNVs in patients with genetic DEE was 16.4% in total, which was higher in seizures occurring below the infantile period or after the diagnosis of developmental delay, in PGE, and in the presence of facial dysmorphism or cardiovascular anomalies.
Keyphrases
  • copy number
  • mitochondrial dna
  • genome wide
  • dna methylation
  • early onset