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we identified the de novo GRIN2A mutation c.1845C>A predicting the amino acid substitution p.N615K. Analysis of NR1-NR2A(N615K) (NR2A subunit with the p.N615K alteration) receptor currents revealed a loss of the Mg²(+) block and a decrease in Ca²(+) permeability. Our findings suggest that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors

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Inc.;;;;;;Place: United States PMID: 25959266

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acquired microcephaly and cerebral atrophy. Brain MRI revealed bilateral periventricular heterotopia

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which is mutated or deleted in Rubinstein-Taybi syndrome. In 10 out of the 12 hitherto described probands, .  et al. 0

the duplication arose de novo. CONCLUSIONS: Interstitial 16p13.3 duplications have a recognizable phenotype

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