Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature - Johnstone, Devon L.; Nguyen, Thi Tuyet Mai; Zambonin, Jessica; Kernohan, Kristin D.; St‐Denis, Anik; Baratang, Nissan V.; Hartley, Taila; Geraghty, Michael T.; Richer, Julie; Majewski, Jacek; Bareke, Eric; Guerin, Andrea; et al. (Journal of inherited metabolic disease, 2020)
Keywords: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Abnormalities, Multiple - metabolism; Basic Medicine; Child; Child, Preschool; Children; Congenital defects; Convulsions & seizures; Encephalopathy; Epilepsy; epileptic encephalopathy; Exome Sequencing; Fatal Outcome; Female; Fibroblasts; Flow cytometry; Glycosylphosphatidylinositol; GPI; Humans; IGD; Infant; Infant, Newborn; Leukocytes (granulocytic); Literature reviews; Male; Medical and Health Sciences; Medicin och hälsovetenskap; Medicinska och farmaceutiska grundvetenskaper; Membrane Proteins - genetics; Midgut; Muscle Hypotonia - genetics; Muscle Hypotonia - pathology; Mutation, Missense; Neurosciences; Neurovetenskaper; Original; Phenotype; Phenotypes; Phosphatidylinositol; PIGQ; rare diseases; Seizures; Seizures - diagnosis; Seizures - genetics; Seizures - metabolism; Spasms, Infantile - genetics; Spasms, Infantile - metabolism; Spasms, Infantile - pathology; Transfection; rare diseases; GPI; exome sequencing; PIGQ; epileptic encephalopathy; IGD