For clinicians and scientists
A review we have written on these disorders can be found here: https://doi.org/10.1111/cge.13425
We continue compiling clinical details on affected individuals using this initiative: https://humandiseasegenes.nl/gene-websites. Please go to the relevant gene page, and click "Professionals" and "Upload clinial information".
Regarding potential therapies for difficult-to-control seizures, if applicable, you could consider Vitamin B6 (100 mg per day), which helps with many defects in this pathway, see notably our publication on PIGS deficiency. More experimentally, based on the folate receptor being GPI-anchored, you could consider trying Folinic acid (1 mg/kg/day per day) and also Mefolinate (30 mg PO BID). Each of these three medications should be tried on separate weeks to assess the effect of the medicine, keeping a seizure journal and ideally performing EEGs before and after any drug. If these are tested with your neurologist, please inform us of their efficacy at p.campeau@umontreal.ca. Please also see this publication reporting the benefit of adding folinic acid for PGAP2 deficiency: https://onlinelibrary.wiley.com/doi/full/10.1002/jmd2.12347
We have listed proven and predicted GPI-anchored proteins here: https://sites.google.com/view/gpi-ap-database
Gene mutation databases
phosphatidylinositol glycan anchor biosynthesis, class A
phosphatidylinositol glycan anchor biosynthesis, class C
phosphatidylinositol glycan anchor biosynthesis, class C
phosphatidylinositol glycan anchor biosynthesis, class G
Phosphatidylinositol glycan anchor biosynthesis, class H
Phosphatidylinositol glycan anchor biosynthesis, class H
Phosphatidylinositol glycan anchor biosynthesis, class L
Phosphatidylinositol glycan anchor biosynthesis, class M
Phosphatidylinositol glycan anchor biosynthesis, class N
Phosphatidylinositol glycan anchor biosynthesis, class O
Phosphatidylinositol glycan anchor biosynthesis, class P
Phosphatidylinositol glycan anchor biosynthesis, class Q
Phosphatidylinositol glycan anchor biosynthesis, class S
Phosphatidylinositol glycan anchor biosynthesis, class T
Phosphatidylinositol glycan anchor biosynthesis, class U
Phosphatidylinositol glycan anchor biosynthesis, class V
Phosphatidylinositol glycan anchor biosynthesis, class W
Phosphatidylinositol glycan anchor biosynthesis, class Y
Post-GPI attachment to proteins 1
Post-GPI attachment to proteins 2
Post-GPI attachment to proteins 3
Glycosylphosphatidylinositol anchor attachment 1
