Johnstone D et al. Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. Hum Molec Genet. 2017;26(9):1706-1715. PMID: 28334793.
Krenn M et al. Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. Ann Clin Transl Neurol. 2019;6(5):968-973. PMID: 31139695.
Vetro A et al. Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations. Neurol Genet. 2020;6(1): e387. PMID: 32042915.
PIGP