PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels

@article{Nakamura2014PIGOMI,
  title={PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels},
  author={Kazuyuki Nakamura and H. Osaka and Y. Murakami and R. Anzai and K. Nishiyama and H. Kodera and M. Nakashima and Y. Tsurusaki and N. Miyake and T. Kinoshita and N. Matsumoto and H. Saitsu},
  journal={Epilepsia},
  year={2014},
  volume={55}
}
Aberrations in the glycosylphosphatidylinositol (GPI)–anchor biosynthesis pathway constitute a subclass of congenital disorders of glycosylation, and mutations in seven genes involved in this pathway have been identified. Among them, mutations in PIGV and PIGO, which are involved in the late stages of GPI‐anchor synthesis, and PGAP2, which is involved in fatty‐acid GPI‐anchor remodeling, are all causative for hyperphosphatasia with mental retardation syndrome (HPMRS). Using whole exome… Expand
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