News and Events : 2015 : March

Stephan Z├╝chner, M.D., Ph.D., professor of human genetics and neurology, interim chair of the Dr. John T. Macdonald Foundation Department of Human Genetics, and coauthor of the study

Geneticists discover new gene associated with epileptic encephalopathy

Miller School researchers were part of an international team that identified a new gene linked to epileptic encephalopathy. Published March 9, 2015, in Nature Genetics, the researchers identified four different de novo mutations in the potassium channel gene KCNA2 that caused mild to severe epileptic encephalopathy by two different mechanisms, predicting either hyperexcitability or electrical silencing of the Kv1.2 potassium channel.

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