A Surprising Cause of Epilepsy: Whole Exome Sequencing in a Child With Focal Cortical Dysplasia Identifies Neurofibromatosis Type 2

Pediatr Neurol. 2018 Aug:85:79-81. doi: 10.1016/j.pediatrneurol.2018.05.006. Epub 2018 Jun 4.
No abstract available

Keywords: Epilepsy; Focal cortical dysplasia; Neurofibromatosis type 2.

MeSH terms

  • Brain / diagnostic imaging
  • Brain / physiopathology
  • Child
  • Diagnosis, Differential
  • Epilepsy / diagnostic imaging
  • Epilepsy / etiology*
  • Epilepsy / genetics*
  • Epilepsy / physiopathology
  • Exome Sequencing
  • Female
  • Humans
  • Malformations of Cortical Development / complications*
  • Malformations of Cortical Development / diagnostic imaging
  • Malformations of Cortical Development / genetics*
  • Malformations of Cortical Development / physiopathology
  • Neurofibromatosis 2 / complications*
  • Neurofibromatosis 2 / diagnostic imaging
  • Neurofibromatosis 2 / genetics*
  • Neurofibromatosis 2 / physiopathology