Tobias Bartolomaeus

Abstract PIGC encodes a protein essential for the biosynthesis of glycophosphatidylinositol-anchored proteins (GPI-APs). So far, three families with biallelic PIGC variants have been reported to exhibit developmental delay/intellectual disability and seizures. Our aim was to further elucidate the clinical and biomolecular characteristics of PIGC pathogenic or likely pathogenic variants. We established a cohort of 18 previously unreported probands.

MBOAT7 encephalopathy is a rare autosomal recessive cause of neurodevelopmental disorders and epilepsy. A gene-specific electroclinical syndrome remains to be characterized. The seizure semiology is heterogeneous, and one third of patients have treatment-resistant seizures. 1 INTRODUCTION The mammalian membrane-bound o-acyltransferase (MBOAT) protein family comprises several acyltransferases, and each of them has a unique preference toward specific acyl donors and acceptors.

The objectives of this study were to maximize the output of our cohort of 152 consanguineous families with children who have NDD and to estimate the effort-benefit ratio so that we can make informed decisions regarding re-evaluation and re-analysis. Thus, we first re-evaluated all previously reported variants and revisited previously reported candidate genes.