A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

Conclusion
This mutation has complex functional effects on GABAA receptors, including reduction of cell surface expression and attenuation of channel function, which would significantly perturb GABAergic inhibition in the brain.

Source: Journal of Medical Genetics - February 17, 2017 Category: Genetics & Stem Cells Authors: Ishii, A., Kang, J.-Q., Schornak, C. C., Hernandez, C. C., Shen, W., Watkins, J. C., Macdonald, R. L., Hirose, S. Tags: Open access, Genetic screening / counselling, Epilepsy and seizures Source Type: research