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Volume 65, Pages 1-13 (December 2016)

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1 Volume 65, Pages 1-13 (December 2016)
Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future  Clara D.M. van Karnebeek, MD, PhD, Kristin Bowden, PhD, Elizabeth Berry-Kravis, MD, PhD  Pediatric Neurology  Volume 65, Pages 1-13 (December 2016) DOI: /j.pediatrneurol Copyright © 2016 Elsevier Inc. Terms and Conditions

2 Figure 1 Two-tiered algorithm for diagnosis of treatable inborn errors of metabolism in intellectual developmental disorder (IDD). The first-tier testing comprises group metabolic tests in urine and blood which should be performed in every patient with IDD of unknown cause. Based on the differential diagnosis generated by the patient's signs and symptoms, the second-tier test is ordered individually at a low threshold. (The color version of this figure is available in the online edition.) Pediatric Neurology  , 1-13DOI: ( /j.pediatrneurol ) Copyright © 2016 Elsevier Inc. Terms and Conditions

3 Figure 2 Dendritic translation pathways dysregulated in single-gene neurogenetic developmental conditions including fragile X syndrome (FMRP), tuberous sclerosis complex (TSC1/TSC2), Rett syndrome (MeCP2), neurofibromatosis type 1 (NF1), and autism/macrocephaly (PTEN). Proteins in orange are those associated with a single-gene neurodevelopmental disorder. Group 1 mGluRs (and other Gq-linked receptors that regulate dendritic translation) activate both ERK and mTOR signaling pathways leading to regulation of dendritic translation and downstream effects of synaptic proteins produced, including AMPA receptor internalization, direct regulation of ion channels and resultant alterations in synaptic strength, and plasticity and dendritic morphology. Many treatments that target these pathways to adjust pathway activity to compensate for the deficit in the disease-associated protein are currently in preclinical studies or early clinical trials. (The color version of this figure is available in the online edition.) Pediatric Neurology  , 1-13DOI: ( /j.pediatrneurol ) Copyright © 2016 Elsevier Inc. Terms and Conditions

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