Article
Epilepsy-associated gene Nedd4-2 mediates neuronal activity and seizure susceptibility through AMPA receptors.
PLoS genetics - 1 Feb 2017
Zhu Jiuhe, Lee Kwan Young, Jewett Kathryn A, Man Heng-Ye, Chung Hee Jung, Tsai Nien-Pei
Abstract excerpt
The neural precursor cell expressed developmentally down-regulated gene 4-2, Nedd4-2, is an epilepsy-associated gene with at least three missense mutations identified in epileptic patients. Nedd4-2 encodes a ubiquitin E3 ligase that has high affinity toward binding and ubiquitinating membrane proteins. It is currently unknown how Nedd4-2 mediates neuronal circuit activity and how its dysfunction leads to seizures...
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