Ellen J Hoffman, Katherine J Turner, Joseph M Fernandez, Daniel Cifuentes, Marcus Ghosh, Sundas Ijaz, Roshan A Jain, Fumi Kubo, Brent R Bill, Herwig Baier, Michael Granato, Michael J F Barresi, Stephen W Wilson, Jason Rihel, Matthew W State, Antonio J Giraldez
Autism spectrum disorders (ASDs) are a group of devastating neurodevelopmental syndromes that affect up to 1 in 68 children. Despite advances in the identification of ASD risk genes, the mechanisms underlying ASDs remain unknown. Homozygous loss-of-function mutations in Contactin Associated Protein-like 2 (CNTNAP2) are strongly linked to ASDs. Here we investigate the function of Cntnap2 and undertake pharmacological screens to identify phenotypic suppressors. We find that zebrafish cntnap2 mutants display GABAergic deficits, particularly in the forebrain, and sensitivity to drug-induced seizures...
February 17, 2016: Neuron