Case report of a child with Dravet syndrome caused by a de novo heterozygous mutation in HCN1 gene mutation

  • 余小华,田茂强,李娟,等
Expand
  • Department of Pediatrics, Affiliated Hospital of Zunyi Medical University, Zunyi 563000, Guizhou, China

Online published: 2021-05-07

Abstract

Objective To explore the clinical manifestations and HCN 1 gene mutation in Dravet syndrome. Methods The clinical data and gene test results of Dravet syndrome in a child were retrospectively analyzed. Results The proband was a one year and 11 months old female who had recurrent febrile seizure onset from 4 months old, she presented with status epilepticus and various seizure types. Gene sequencing identified a de novo heterozygous mutation of c.1199 T>C (p.L400 P) in the HCN 1 gene. Conclusion The novel mutation of HCN 1 gene was classified as pathogenic, which enriched the mutation spectrum of Dravet syndrome.

Cite this article

余小华,田茂强,李娟,等 . Case report of a child with Dravet syndrome caused by a de novo heterozygous mutation in HCN1 gene mutation[J]. Journal of Clinical Pediatrics, 2021 , 39(5) : 382 . DOI: 10.3969/j.issn.1000-3606.2021.05.014

Outlines

/