Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

• Published in: American journal of human genetics Vol. 103; no. 4; pp. 602 - 611
• Main Authors: Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Wigby, Kristen M., Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Rosenfeld, Jill A., Laniewski, Stephanie C., Jones, Julie, Iglesias, Alejandro D., Jones, Marilyn C., Masser-Frye, Diane, Scheuerle, Angela E., Perry, Denise L., Taft, Ryan J., Le Deist, Françoise, Thompson, Miles, Kinoshita, Taroh, Campeau, Philippe M.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 04.10.2018; Elsevier
• Subjects: epilepsy; glycosylphosphatidylinositol; glycosylphosphatidylinositol biosynthesis defect; inherited GPI deficiency; PIGS; seizures; PIGS; epilepsy; glycosylphosphatidylinositol biosynthesis defect; seizures; glycosylphosphatidylinositol; inherited GPI deficiency

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 whole-genome sequencing (WGS). IGDs cause a series of overlapping phenotypes consisting of seizures, dysmorphic feature...