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.
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