Glycosylphosphatidylinositol biosynthesis defects cause rare genetic disorders
characterised by developmental delay/intellectual disability, seizures, dysmorphic features …

Heart failure (HF) is a progressive chronic disease that remains a primary cause of death
worldwide, affecting over 64 million patients. HF can be caused by cardiomyopathies and …

Mesial temporal lobe epilepsy with hippocampal sclerosis (mTLE-HS) is the most common
type of focal epilepsy. The present study aimed to explore the expression and functions of …

Abstract Background Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a
group of phenotypically overlapping recessive syndromes with intellectual disability, for …

Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein
and lipid hypoglycosylation. This rapidly growing family of genetic diseases comprises 103 …

Proteins anchored to the cell surface via glycosylphosphatidylinositol (GPI) play various key
roles in the human body, particularly in development and neurogenesis. As such, many …

Fryns syndrome is an autosomal recessive condition characterized by congenital
diaphragmatic hernia (CDH), dysmorphic facial features, distal digital hypoplasia, and other …

Aim To assess the clinical utility of exome sequencing for patients with developmental and
epileptic encephalopathies (DEEs). Method Over 2 years, patients with DEEs were recruited …

Inherited GPI deficiencies (IGDs) are a subset of congenital disorders of glycosylation that
are increasingly recognized as a result of advances in whole-exome sequencing (WES) and …

Background Defects in the glycosylphosphatidylinositol (GPI) biosynthesis pathway can
result in a group of congenital disorders of glycosylation known as the inherited GPI …