Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy.

@article{Jansen2014GlialLO,
  title={Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy.},
  author={Laura A. Jansen and Robert F Hevner and William H. Roden and Si Houn Hahn and Sunhee Jung and Sidney M. Gospe},
  journal={Annals of neurology},
  year={2014},
  volume={75 1},
  pages={22-32}
}
OBJECTIVE 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. METHODS Formalin… CONTINUE READING
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