Article
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
American journal of human genetics - 6 Oct 2016
Li Dong, Yuan Hongjie, Ortiz-Gonzalez Xilma R, Marsh Eric D, Tian Lifeng, McCormick Elizabeth M, Kosobucki Gabrielle J, Chen Wenjuan, Schulien Anthony J, Chiavacci Rosetta, Tankovic Anel, Naase Claudia, Brueckner Frieder, von Stülpnagel-Steinbeis Celina, Hu Chun, Kusumoto Hirofumi, Hedrich Ulrike B S, Elsen Gina, Hörtnagel Konstanze, Aizenman Elias, Lemke Johannes R, Hakonarson Hakon, Traynelis Stephen F, Falk Marni J
Abstract excerpt
N-methyl-D-aspartate receptors (NMDARs) are ligand-gated cation channels that mediate excitatory synaptic transmission. Genetic mutations in multiple NMDAR subunits cause various childhood epilepsy syndromes. Here, we report a de novo recurrent heterozygous missense mutation-c.1999G>A (p.Val667Ile)-in a NMDAR gene previously unrecognized to harbor disease-causing mutations, GRIN2D, identified by exome and...
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