Epileptic-dyskinetic encephalopathy underpinned by PIGP mutations in a single family

Takeaway

  • Genetic variants in the phosphatidylinositol glycan anchor biosynthesis class P (PIGP) gene were associated with an epileptic encephalopathy in a consanguineous family.

Why this matters

  • Mutations in PIGP — a member of the glycosylphosphatidylinositol (GPI) anchor biosynthesis gene family — have only recently been linked to human diseases. Examining rare cases of inherited GPI deficiencies could help to support the genetic diagnosis of future cases.