Altered zinc sensitivity of NMDA receptors harboring clinically-relevant mutations.

  title={Altered zinc sensitivity of NMDA receptors harboring clinically-relevant mutations.},
  author={Benjamin Serraz and Teddy Grand and Pierre Paoletti},
Recent human genetic studies have identified a surprisingly high number of alterations in genes encoding NMDA receptor (NMDAR) subunits in several common brain diseases. Among NMDAR subunits, the widely-expressed GluN2A subunit appears particularly affected, with tens of de novo or inherited mutations associated with neurodevelopmental conditions including childhood epilepsies and cognitive deficits. Despite the increasing identification of NMDAR mutations of clinical interest, there is still… CONTINUE READING
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