A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

Early myoclonic encephalopathy (EME) is a refractory epilepsy syndrome afflicting newborns that causes severe mental and developmental retardation. EME is often considered a complication of congenital metabolic diseases. In this study, abnormal GABAA receptors were shown to cause EME. The GABAA receptor is an ion channel, which plays a cardinal role in the inhibitory neuronal network controlling hyper-excitation of the brain, i.e., seizures. We identified a mutation that hampers GABAA receptor function. This is the first report to show that an ion channel is associated with EME, and should provide clues for the treatment of this devastating disease. (By Dr. Shinichi Hirose, http://jmg.bmj.com/content/early/2016/10/27/jmedgenet-2016-104083 )

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