De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes - Rivière, Jean-Baptiste; Mirzaa, Ghayda M; O'Roak, Brian J; Beddaoui, Margaret; Alcantara, Diana; Conway, Robert L; St-Onge, Judith; Schwartzentruber, Jeremy A; Gripp, Karen W; Nikkel, Sarah M; Worthylake, Thea; Sullivan, Christopher T; et al. (Nature genetics, 2012)
Keywords: 631/208/2489/144; 631/208/737; 631/80/86; 692/699/2743/1530; Abnormalities; Agriculture; Animal Genetics and Genomics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Brain; Cancer Research; Class I Phosphatidylinositol 3-Kinases; Complex syndromes; Enzymes; Exome; Experiments; Fundamental and applied biological sciences. Psychology; Gene Function; Gene mutations; Genetic aspects; Genetics of eukaryotes. Biological and molecular evolution; Genomes; Germ-Line Mutation; Health aspects; Heterogeneity; Human Genetics; Humans; Hydrocephalus - enzymology; Hydrocephalus - genetics; Hydrocephalus - pathology; Kinases; letter; Malformations of Cortical Development - enzymology; Malformations of Cortical Development - genetics; Malformations of Cortical Development - pathology; Malformations of the nervous system; Medical genetics; Medical research; Medical sciences; Megalencephaly - enzymology; Megalencephaly - genetics; Megalencephaly - pathology; Mutation; Mutation, Missense; Neurology; Phosphatidylinositol 3-Kinases - genetics; Physiological aspects; Protein kinases; Proto-Oncogene Proteins c-akt - genetics; Siblings; Syndrome; Womens health; United Kingdom; Nervous system diseases; Enzyme; Transferases; Congenital disease; De novo; Syndrome; Cerebral disorder; 1-Phosphatidylinositol 3-kinase; Spectrum; Megalencephaly; Malformation; Germ line; Central nervous system disease; Mutation