Eur J Hum Genet 2014 Jan 22;22(1):105-9. Epub 2013 May 22.
1] Division of Molecular and Human Genetics, The Research Institute, Nationwide Children's Hospital, Columbus, OH, USA  Department of Pediatrics, The Ohio State University, Columbus, OH, USA  Center for Cardiovascular and Pulmonary Research, The Research Institute, Nationwide Children's Hospital, Columbus, OH, USA.
Recent studies have shown that certain copy number variations (CNV) are associated with a wide range of neurodevelopmental disorders, including autism spectrum disorders (ASD), bipolar disorder and intellectual disabilities. Implicated regions and genes have comprised a variety of post synaptic complex proteins and neurotransmitter receptors, including gamma-amino butyric acid A (GABAA). Clusters of GABAA receptor subunit genes are found on chromosomes 4p12, 5q34, 6q15 and 15q11-13. Read More