De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature

Pediatr Neurol. 2018 Aug:85:76-78. doi: 10.1016/j.pediatrneurol.2018.03.005. Epub 2018 Apr 4.
No abstract available

Keywords: Epilepsy; Epileptic encephalopathy; HECW2; Whole exome sequencing.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Brain / diagnostic imaging
  • Brain / physiopathology
  • Child, Preschool
  • Developmental Disabilities / diagnostic imaging
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / physiopathology
  • Diagnosis, Differential
  • Epilepsy / diagnostic imaging
  • Epilepsy / genetics*
  • Epilepsy / physiopathology
  • Humans
  • Intellectual Disability / diagnostic imaging
  • Intellectual Disability / genetics*
  • Intellectual Disability / physiopathology
  • Male
  • Mutation*
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • HECW2 protein, human
  • Ubiquitin-Protein Ligases