Article
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.
Translational psychiatry - 15 Nov 2011
Tarabeux J, Kebir O, Gauthier J, Hamdan F F, Xiong L, Piton A, Spiegelman D, Henrion É, Millet B, Fathalli F, Joober R, Rapoport J L, DeLisi L E, Fombonne É, Mottron L, Forget-Dubois N, Boivin M, Michaud J L, Drapeau P, Lafrenière R G, Rouleau G A, Krebs M-O
Abstract excerpt
Pharmacological, genetic and expression studies implicate N-methyl-D-aspartate (NMDA) receptor hypofunction in schizophrenia (SCZ). Similarly, several lines of evidence suggest that autism spectrum disorders (ASD) could be due to an imbalance between excitatory and inhibitory neurotransmission. As part of a project aimed at exploring rare and/or de novo mutations in neurodevelopmental disorders, we have sequenced...
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