Deepa Susan Rajan

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Children with autistic spectrum disorder are known to have histopathological abnormalities in the cerebellum. Diffusion tensor imaging has been utilized to study abnormalities in connectivity and microintegrity in brains of such children. A region of interest approach was adopted to study cerebellar outflow and inflow pathways in 27 children (24 males; mean(More)
OBJECTIVE To determine the phenotypic spectrum caused by mutations in GRIN1 encoding the NMDA receptor subunit GluN1 and to investigate their underlying functional pathophysiology. METHODS We collected molecular and clinical data from several diagnostic and research cohorts. Functional consequences of GRIN1 mutations were investigated in Xenopus laevis(More)
(A) Functional analysis of the missense alterations p.Pro557Arg, p.Tyr647Ser, p.Gly815Arg and p.Phe817Leu showed a significant reduction in maximal-inducible currents upon heterologous expression with GluN2B in Xenopus laevis oocytes and two-electrode voltage clamping (TEVC). (B) Pharmacological characterization of the apparent glutamate affinities of(More)
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