Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies - Knaus, Alexej; Kortüm, Fanny; Kleefstra, Tjitske; Stray-Pedersen, Asbjørg; Đukić, Dejan; Murakami, Yoshiko; Gerstner, Thorsten; van Bokhoven, Hans; Iqbal, Zafar; Horn, Denise; Kinoshita, Taroh; Hempel, Maja; et al. (American journal of human genetics, 2019)
Keywords: Acyltransferases - genetics; Adolescent; Adult; Amino Acid Sequence; automated facial analysis; Brain Diseases - etiology; Brain Diseases - pathology; Child; Child, Preschool; deep phenotyping; epilepsy; Epilepsy - etiology; Epilepsy - pathology; Female; glycosylphosphatidylinositol; Glycosylphosphatidylinositols - biosynthesis; Glycosylphosphatidylinositols - deficiency; Glycosylphosphatidylinositols - genetics; GPIBD; Humans; Infant; Infant, Newborn; inherited GPI deficiency; Intellectual Disability - etiology; Intellectual Disability - pathology; Male; multicolor flow cytometry; Mutation; Pedigree; PIGU; Seizures - genetics; Seizures - pathology; Sequence Homology; Young Adult; epilepsy; PIGU; inherited GPI deficiency; automated facial analysis; multicolor flow cytometry; glycosylphosphatidylinositol; deep phenotyping; GPIBD