Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1

Pediatr Neurol. 2017 Nov:76:91-92. doi: 10.1016/j.pediatrneurol.2017.08.003. Epub 2017 Aug 15.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Child
  • Child, Preschool
  • Collagen Type VIII / genetics*
  • Collagen Type XVIII
  • Developmental Disabilities* / etiology
  • Developmental Disabilities* / genetics
  • Developmental Disabilities* / pathology
  • Developmental Disabilities* / physiopathology
  • Drug Resistant Epilepsy* / etiology
  • Drug Resistant Epilepsy* / genetics
  • Drug Resistant Epilepsy* / pathology
  • Drug Resistant Epilepsy* / physiopathology
  • Encephalocele* / complications
  • Encephalocele* / genetics
  • Encephalocele* / pathology
  • Encephalocele* / physiopathology
  • Humans
  • Male
  • Mutation
  • Polymicrogyria* / etiology
  • Polymicrogyria* / genetics
  • Polymicrogyria* / pathology
  • Polymicrogyria* / physiopathology
  • Retinal Degeneration* / complications
  • Retinal Degeneration* / genetics
  • Retinal Degeneration* / pathology
  • Retinal Degeneration* / physiopathology
  • Retinal Detachment / complications
  • Retinal Detachment / congenital*
  • Retinal Detachment / genetics
  • Retinal Detachment / pathology
  • Retinal Detachment / physiopathology
  • Siblings

Substances

  • COL18A1 protein, human
  • Collagen Type VIII
  • Collagen Type XVIII

Supplementary concepts

  • Knobloch syndrome