We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy.
- Authors
Jansen, Laura A; Hevner, Robert F; Roden, William H; Hahn, Si Houn; Jung, Sunhee; Gospe, Sidney M, Jr
- Abstract
A high incidence of structural brain abnormalities has been reported in individuals with pyridoxine-dependent epilepsy (PDE). PDE is caused by mutations in ALDH7A1, also known as antiquitin. How antiquitin dysfunction leads to cerebral dysgenesis is unknown. In this study, we analyzed tissue from a child with PDE as well as control human and murine brain to determine the normal distribution of antiquitin, its distribution in PDE, and associated brain malformations.
- Publication
Annals of neurology, 2014, Vol 75, Issue 1, p22
- ISSN
1531-8249
- Publication type
Journal Article
- DOI
10.1002/ana.24027