Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders

Does treatment have an impact on incidence and risk factors for autism spectrum disorders in children with infantile spasms?

(2015) Jonathan Y. Bitton et al.   EPILEPSIA

Is birth a critical period in the pathogenesis of autism spectrum disorders?

(2015) Yehezkel Ben-Ari   NATURE REVIEWS NEUROSCIENCE

Face processing in autism spectrum disorders: From brain regions to brain networks

(2015) Jason S. Nomi et al.   NEUROPSYCHOLOGIA

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alterations of visual and auditory evoked potentials in fragile X syndrome

(2014) Inga Sophia Knoth et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Interneuron cell types are fit to function

(2014) Adam Kepecs et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Prioritization of neurodevelopmental disease genes by discovery of new mutations

(2014) Alexander Hoischen et al.   NATURE NEUROSCIENCE

Dynamic circuit motifs underlying rhythmic gain control, gating and integration

(2014) Thilo Womelsdorf et al.   NATURE NEUROSCIENCE

Sensory Integration in Mouse Insular Cortex Reflects GABA Circuit Maturation

(2014) Nadine Gogolla et al.   NEURON

The construct of the multisensory temporal binding window and its dysregulation in developmental disabilities

(2014) Mark T. Wallace et al.   NEUROPSYCHOLOGIA

Patches of Disorganization in the Neocortex of Children with Autism

(2014) Rich Stoner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Seizures and EEG pattern in the 22q13.3 deletion syndrome: Clinical report of six Italian cases

(2014) Maria Grazia Figura et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

A de novo convergence of autism genetics and molecular neuroscience

(2014) Niklas Krumm et al.   TRENDS IN NEUROSCIENCES

Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism

(2014) Simone Gupta et al.   Nature Communications

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

(2014) B. J. O'Roak et al.   Nature Communications

Fragile X syndrome: From protein function to therapy

(2013) Claudia Bagni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

(2013) Neelroop N. Parikshak et al.   CELL

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

(2013) Kihoon Han et al.   NATURE

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

NINDS epilepsy and autism spectrum disorders workshop report

(2013) R. Tuchman et al.   NEUROLOGY

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

(2013) Elaine T. Lim et al.   NEURON

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

(2013) Timothy W. Yu et al.   NEURON

Modeling Autism by SHANK Gene Mutations in Mice

(2013) Yong-hui Jiang et al.   NEURON

Clinical Characteristics of Children with Autism Spectrum Disorder and Co-Occurring Epilepsy

(2013) Emma W. Viscidi et al.   PLoS One

Pharmacological treatment of fragile X syndrome with GABAergic drugs in a knockout mouse model

(2012) Inge Heulens et al.   BEHAVIOURAL BRAIN RESEARCH

Insights into Cortical Oscillations Arising from Optogenetic Studies

(2012) Vikaas S. Sohal   BIOLOGICAL PSYCHIATRY

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism

(2012) Gaetan Lesca et al.   EPILEPSIA

Autistic-like behaviour in Scn1a +/− mice and rescue by enhanced GABA-mediated neurotransmission

(2012) Sung Han et al.   NATURE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Unreliable Evoked Responses in Autism

(2012) Ilan Dinstein et al.   NEURON

Neuronal Dynamics and Neuropsychiatric Disorders: Toward a Translational Paradigm for Dysfunctional Large-Scale Networks

(2012) Peter J. Uhlhaas et al.   NEURON

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

High-frequency oscillations – Where we are and where we need to go

(2012) Jerome Engel et al.   PROGRESS IN NEUROBIOLOGY

NMDA Receptor Hypofunction, Parvalbumin-Positive Neurons, and Cortical Gamma Oscillations in Schizophrenia

(2012) G. Gonzalez-Burgos et al.   SCHIZOPHRENIA BULLETIN

Reversal of Disease-Related Pathologies in the Fragile X Mouse Model by Selective Activation of GABAB Receptors with Arbaclofen

(2012) C. Henderson et al.   Science Translational Medicine

Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: A Randomized, Controlled, Phase 2 Trial

(2012) E. M. Berry-Kravis et al.   Science Translational Medicine

Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits

(2011) Olga Peñagarikano et al.   CELL

GABAergic Interneuron Development and Function Is Modulated by the Tsc1 Gene

(2011) Cary Fu et al.   CEREBRAL CORTEX

Epilepsy and Autism: Neurodevelopmental Perspective

(2011) Roberto Tuchman et al.   Current Neurology and Neuroscience Reports

Autism in Dravet syndrome: Prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation

(2011) Bing-Mei Li et al.   EPILEPSY & BEHAVIOR

Impaired inhibitory control of cortical synchronization in fragile X syndrome

(2011) Scott M. Paluszkiewicz et al.   JOURNAL OF NEUROPHYSIOLOGY

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

Neocortical excitation/inhibition balance in information processing and social dysfunction

(2011) Ofer Yizhar et al.   NATURE

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

Sensory Processing in Autism: A Review of Neurophysiologic Findings

(2011) ELYSA J. MARCO et al.   PEDIATRIC RESEARCH

GABAergic synchronization in the limbic system and its role in the generation of epileptiform activity

(2011) Massimo Avoli et al.   PROGRESS IN NEUROBIOLOGY

Early-onset acquired epileptic aphasia (Landau–Kleffner syndrome, LKS) and regressive autistic disorders with epileptic EEG abnormalities: The continuing debate

(2010) Thierry Deonna et al.   BRAIN & DEVELOPMENT

Autism Spectrum Disorders in Tuberous Sclerosis: Pathogenetic Pathways and Implications for Treatment

(2010) Paolo Curatolo et al.   JOURNAL OF CHILD NEUROLOGY

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

(2010) Hsiao-Tuan Chao et al.   NATURE

A Missense Mutation in a Highly Conserved Alternate Exon of Dynamin-1 Causes Epilepsy in Fitful Mice

(2010) Rebecca M. Boumil et al.   PLoS Genetics

Epilepsy in Autism is Associated with Intellectual Disability and Gender: Evidence from a Meta-Analysis

(2008) Claire Amiet et al.   BIOLOGICAL PSYCHIATRY

Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila

(2008) Shuang Chang et al.   Nature Chemical Biology

Cell- and stimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons

(2008) M. Hayashi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA