Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function - Paciorkowski, Alex R; Thio, Liu Lin; Rosenfeld, Jill A; Gajecka, Marzena; Gurnett, Christina A; Kulkarni, Shashikant; Chung, Wendy K; Marsh, Eric D; Gentile, Mattia; Reggin, James D; Wheless, James W; Balasubramanian, Sandhya; et al. (European journal of human genetics : EJHG, 2011)
Keywords: 631/114; 631/208/2489/1381; 631/208/457/649; 631/378/1689/178; Autism; Bioinformatics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Brain research; Child clinical studies; Chromosome Aberrations; Chromosomes; Classical genetics, quantitative genetics, hybrids; Clonal deletion; Computational Biology; Copy number; Cytogenetics; Developmental disorders; Encephalopathy; Epilepsy; Forebrain; Fundamental and applied biological sciences. Psychology; Gene Dosage; Gene Expression; Gene Regulatory Networks; General aspects. Genetic counseling; Genes; Genetic diversity; Genetic Loci; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genotype & phenotype; Human; Human Genetics; Humans; Hypotheses; Infant; Infant, Newborn; Infantile autism; Infants; Medical genetics; Medical sciences; Molecular and cellular biology; Neurology; Pathogenesis; Pediatrics; Phenotypes; Postsynaptic density; Prosencephalon - abnormalities; Prosencephalon - metabolism; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Seizures; Spasms, Infantile - genetics; Synaptic Transmission - genetics; Synaptogenesis; γ-Aminobutyric acid; United States--US; Italy; copy number variation; deletion 1p36 syndrome; infantile spasms; autism; bioinformatics; Chromosomal aberration; Human; Genetic mapping; Nervous system diseases; Copy number; Variations; Developmental disorder; Variant; Autism; Deletion; Development; Spasm; Genetics; Neurological disorder; Child