Functional Analysis of a De Novo GRIN2A Missense Mutation Associated with Early-onset Epileptic Encephalopathy

@inproceedings{Yuan2014FunctionalAO,
  title={Functional Analysis of a De Novo GRIN2A Missense Mutation Associated with Early-onset Epileptic Encephalopathy},
  author={Hongjie Yuan and Kasper B Hansen and Jing Zhang and T M Pierson and Thomas C. Markello and Karin V. Fuentes Fajardo and Conisha Mone Holloman and Gretchen A. Golas and David R Adams and Cornelius F. Boerkoel and William A Gahl and Stephen F Traynelis},
  booktitle={Nature communications},
  year={2014}
}
NMDA receptors (NMDARs), ligand-gated ion channels, play important roles in various neurological disorders, including epilepsy. Here we show the functional analysis of a de novo missense mutation (L812M) in a gene encoding NMDAR subunit GluN2A (GRIN2A). The mutation, identified in a patient with early-onset epileptic encephalopathy and profound developmental delay, is located in the linker region between the ligand-binding and transmembrane domains. Electrophysiological recordings revealed that… CONTINUE READING
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