Ontology highlight
ABSTRACT:
SUBMITTER: Krenn M
PROVIDER: S-EPMC6530525 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Krenn Martin M Knaus Alexej A Westphal Dominik S DS Wortmann Saskia B SB Polster Tilman T Woermann Friedrich G FG Karenfort Michael M Mayatepek Ertan E Meitinger Thomas T Wagner Matias M Distelmaier Felix F
Annals of clinical and translational neurology 20190411 5
Developmental and epileptic encephalopathies are characterized by infantile seizures and psychomotor delay. Glycosylphosphatidylinositol biosynthesis defects, resulting in impaired tethering of various proteins to the cell surface, represent the underlying pathology in some patients. One of the genes involved, <i>PIGP</i>, has recently been associated with infantile seizures and developmental delay in two siblings. Here, we report the second family with a markedly overlapping phenotype due to a ...[more]