PRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation

HIGHLIGHTS

  • who: Long-Shan Xie and Yong-Hong Yi from the Johns Hopkins Medicine, United StatesAffiliated Hospital of Guangzhou Medical University, Guangzhou, China, Department of Pediatrics have published the Article: PRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation, in the Journal: (JOURNAL)
  • what: The reported case and the case presented in this study provided direct evidence of epileptic seizures in infants with PRRT2 mutations.
  • SUMMARY

      The copy number variation was detected by a computational method based on the normalized depth of coverage and validated by a . . .

       

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