An 18-month-old with white matter calcifications and seizures

Brain Pathol. 2022 Sep;32(5):e13082. doi: 10.1111/bpa.13082. Epub 2022 Jun 14.
No abstract available

Keywords: Axonal guidance; COL4A1; basement membrane; collagen; epilepsy; neurodevelopment.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Calcinosis* / complications
  • Collagen Type IV / metabolism
  • Humans
  • Infant
  • Mutation
  • Seizures
  • White Matter* / diagnostic imaging
  • White Matter* / metabolism

Substances

  • Collagen Type IV