Article
Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.
Scientific reports - 16 Mar 2020
Zhang Jiaren, Kim Eung Chang, Chen Congcong, Procko Erik, Pant Shashank, Lam Kin, Patel Jaimin, Choi Rebecca, Hong Mary, Joshi Dhruv, Bolton Eric, Tajkhorshid Emad, Chung Hee Jung
Abstract excerpt
Kv7 channels are enriched at the axonal plasma membrane where their voltage-dependent potassium currents suppress neuronal excitability. Mutations in Kv7.2 and Kv7.3 subunits cause epileptic encephalopathy (EE), yet the underlying pathogenetic mechanism is unclear. Here, we used novel statistical algorithms and structural modeling to identify EE mutation hotspots in key functional domains of Kv7.2 including...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.