The Neurobiology of X-Linked Intellectual Disability

Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

(2014) Christel Depienne et al.   PLoS Genetics

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

(2013) J. J. T. van Harssel et al.   NEUROGENETICS

FMRP Regulates Neurotransmitter Release and Synaptic Information Transmission by Modulating Action Potential Duration via BK Channels

(2013) Pan-Yue Deng et al.   NEURON

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: Two novel mutations and review of the literature

(2012) Ana Camacho et al.   EPILEPSY & BEHAVIOR

Seizures and X-linked intellectual disability

(2012) Roger E. Stevenson et al.   European Journal of Medical Genetics

Tetraspanins: Interactions and interplay with integrins

(2012) Silvia Bassani et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

MeCP2 Is Critical for Maintaining Mature Neuronal Networks and Global Brain Anatomy during Late Stages of Postnatal Brain Development and in the Mature Adult Brain

(2012) M. V. C. Nguyen et al.   JOURNAL OF NEUROSCIENCE

Alteration of Synaptic Network Dynamics by the Intellectual Disability Protein PAK3

(2012) A. Dubos et al.   JOURNAL OF NEUROSCIENCE

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons

(2012) Sara Ricciardi et al.   NATURE CELL BIOLOGY

The X-Linked Intellectual Disability Protein TSPAN7 Regulates Excitatory Synapse Development and AMPAR Trafficking

(2012) Silvia Bassani et al.   NEURON

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus

(2011) Mark R Etherton et al.   EMBO JOURNAL

IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features

(2011) Erin L. Youngs et al.   European Journal of Medical Genetics

The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPδ and RhoGAP2

(2011) Pamela Valnegri et al.   HUMAN MOLECULAR GENETICS

Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits

(2011) Ger J.A. Ramakers et al.   HUMAN MOLECULAR GENETICS

Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model

(2011) Sara Ricciardi et al.   HUMAN MOLECULAR GENETICS

ExtrasynapticN-Methyl-d-aspartate (NMDA) Receptor Stimulation Induces Cytoplasmic Translocation of the CDKL5 Kinase and Its Proteasomal Degradation

(2011) Laura Rusconi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Targeted treatments for fragile X syndrome

(2011) Elizabeth Berry-Kravis et al.   Journal of Neurodevelopmental Disorders

IL-1 Receptor Accessory Protein-Like 1 Associated with Mental Retardation and Autism Mediates Synapse Formation by Trans-Synaptic Interaction with Protein Tyrosine Phosphatase  

(2011) T. Yoshida et al.   JOURNAL OF NEUROSCIENCE

A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα

(2011) Pamela Valnegri et al.   NATURE NEUROSCIENCE

Neuroligin-4 is localized to glycinergic postsynapses and regulates inhibition in the retina

(2011) M. Hoon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function

(2011) M. Etherton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males

(2010) Stephen C. Collins et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Postsynaptic Signaling Pathway that May Account for the Cognitive Defect Due to IL1RAPL1 Mutation

(2010) Alice Pavlowsky et al.   CURRENT BIOLOGY

Exogenous Brain-Derived Neurotrophic Factor Rescues Synaptic Dysfunction in Mecp2-Null Mice

(2010) D. D. Kline et al.   JOURNAL OF NEUROSCIENCE

Defective GABAergic Neurotransmission and Pharmacological Rescue of Neuronal Hyperexcitability in the Amygdala in a Mouse Model of Fragile X Syndrome

(2010) J. L. Olmos-Serrano et al.   JOURNAL OF NEUROSCIENCE

CDKL5, a Protein Associated with Rett Syndrome, Regulates Neuronal Morphogenesis via Rac1 Signaling

(2010) Q. Chen et al.   JOURNAL OF NEUROSCIENCE

Early developmental alterations in GABAergic protein expression in fragile X knockout mice

(2010) Daniel C. Adusei et al.   NEUROPHARMACOLOGY

Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA

(2009) Bradford Coffee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

X-linked mental retardation: focus on synaptic function and plasticity

(2009) Yann Humeau et al.   JOURNAL OF NEUROCHEMISTRY

The FXG: A Presynaptic Fragile X Granule Expressed in a Subset of Developing Brain Circuits

(2009) S. B. Christie et al.   JOURNAL OF NEUROSCIENCE

Origins of Epilepsy in Fragile X Syndrome

(2009) Paul J. Hagerman et al.   Epilepsy Currents

A Novel Function for Fragile X Mental Retardation Protein in Translational Activation

(2009) Elias G Bechara et al.   PLOS BIOLOGY

The microRNA pathway and fragile X mental retardation protein

(2008) Y LI et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Genetics of intellectual disability

(2008) H Hilger Ropers   CURRENT OPINION IN GENETICS & DEVELOPMENT

CDKL5 Expression Is Modulated during Neuronal Development and Its Subcellular Distribution Is Tightly Regulated by the C-terminal Tail

(2008) Laura Rusconi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

(2008) Leanne M Dibbens et al.   NATURE GENETICS

Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism

(2008) S. Jamain et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA