Neurobiological bases of autism-epilepsy comorbidity: a focus on excitation/inhibition imbalance

Neuroinflammatory targets and treatments for epilepsy validated in experimental models

(2017) Eleonora Aronica et al.   EPILEPSIA

Impaired GABAergic inhibition in the hippocampus of Fmr1 knockout mice

(2017) Victor Sabanov et al.   NEUROPHARMACOLOGY

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

(2016) Dora C. Tărlungeanu et al.   CELL

Reduced GABAergic Action in the Autistic Brain

(2016) Caroline E. Robertson et al.   CURRENT BIOLOGY

Brain GABA levels across psychiatric disorders: A systematic literature review and meta-analysis of1H-MRS studies

(2016) Remmelt R. Schür et al.   HUMAN BRAIN MAPPING

A Prospective Open-Label Trial of Memantine Hydrochloride for the Treatment of Social Deficits in Intellectually Capable Adults With Autism Spectrum Disorder

(2016) Gagan Joshi et al.   JOURNAL OF CLINICAL PSYCHOPHARMACOLOGY

Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study

(2016) Jacqueline A French et al.   LANCET

Advancing the understanding of autism disease mechanisms through genetics

(2016) Luis de la Torre-Ubieta et al.   NATURE MEDICINE

GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility

(2016) Matthew C. Judson et al.   NEURON

Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes

(2016) Ji-Ann Lee et al.   NEURON

Arbaclofen in Children and Adolescents with Autism Spectrum Disorder: A Randomized, Controlled, Phase 2 Trial

(2016) Jeremy Veenstra-VanderWeele et al.   NEUROPSYCHOPHARMACOLOGY

Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference

(2016) Mustafa Sahin et al.   PEDIATRIC NEUROLOGY

Applying the Lessons of Tuberous Sclerosis: The 2015 Hower Award Lecture

(2016) E. Steve Roach   PEDIATRIC NEUROLOGY

Maternal immune activation: Implications for neuropsychiatric disorders

(2016) M. L. Estes et al.   SCIENCE

Failure of the Nemo Trial: Bumetanide Is a Promising Agent to Treat Many Brain Disorders but Not Newborn Seizures

(2016) Yehezkel Ben-Ari et al.   Frontiers in Cellular Neuroscience

PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking

(2016) Tsutomu Nakamura et al.   Nature Communications

The Timing of the Excitatory-to-Inhibitory GABA Switch Is Regulated by the Oxytocin Receptor via KCC2

(2016) Marianna Leonzino et al.   Cell Reports

Epilepsy and Autism

(2016) Ashura W. Buckley et al.   Cold Spring Harbor Perspectives in Medicine

Reduction in parvalbumin expression not loss of the parvalbumin-expressing GABA interneuron subpopulation in genetic parvalbumin and shank mouse models of autism

(2016) Federica Filice et al.   Molecular Brain

Insulin-Like Growth Factor 1 and Related Compounds in the Treatment of Childhood-Onset Neurodevelopmental Disorders

(2016) Cyrus Vahdatpour et al.   Frontiers in Neuroscience

Neuropathological Mechanisms of Seizures in Autism Spectrum Disorder

(2016) Richard E. Frye et al.   Frontiers in Neuroscience

Comparative Gene Expression Analysis of Two Mouse Models of Autism: Transcriptome Profiling of the BTBR and En2−/− Hippocampus

(2016) Giovanni Provenzano et al.   Frontiers in Neuroscience

Defining Precision Medicine Approaches to Autism Spectrum Disorders: Concepts and Challenges

(2016) Eva Loth et al.   Frontiers in Psychiatry

Reduced CYFIP1 in Human Neural Progenitors Results in Dysregulation of Schizophrenia and Epilepsy Gene Networks

(2016) Rebecca A. Nebel et al.   PLoS One

Dissecting the phenotypes of Dravet syndrome by gene deletion

(2015) Moran Rubinstein et al.   BRAIN

The GABAAreceptor is an FMRP target with therapeutic potential in fragile X syndrome

(2015) Sien Braat et al.   CELL CYCLE

Metabotropic glutamate receptor 5 as drug target for Fragile X syndrome

(2015) Sebastian H Scharf et al.   CURRENT OPINION IN PHARMACOLOGY

Advances in the Understanding of the Gabaergic Neurobiology of FMR1 Expanded Alleles Leading to Targeted Treatments for Fragile X Spectrum Disorder

(2015) Reymundo Lozano et al.   CURRENT PHARMACEUTICAL DESIGN

Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders

(2015) John Jacob   EPILEPSIA

Metabolic and mitochondrial disorders associated with epilepsy in children with autism spectrum disorder

(2015) Richard E. Frye   EPILEPSY & BEHAVIOR

Structural MRI biomarkers of shared pathogenesis in autism spectrum disorder and epilepsy

(2015) Karen Blackmon   EPILEPSY & BEHAVIOR

A Pilot Study on the Combination of Applied Behavior Analysis and Bumetanide Treatment for Children with Autism

(2015) Lin Du et al.   JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY

Autism Spectrum Disorder and Epilepsy

(2015) Shafali Spurling Jeste et al.   JOURNAL OF CHILD NEUROLOGY

Dysregulation of Mammalian Target of Rapamycin Signaling in Mouse Models of Autism

(2015) K. M. Huber et al.   JOURNAL OF NEUROSCIENCE

Bumetanide for the treatment of seizures in newborn babies with hypoxic ischaemic encephalopathy (NEMO): an open-label, dose finding, and feasibility phase 1/2 trial

(2015) Ronit M Pressler et al.   LANCET NEUROLOGY

Overexpression of Telomerase Reverse Transcriptase Induces Autism-like Excitatory Phenotypes in Mice

(2015) Ki Chan Kim et al.   MOLECULAR NEUROBIOLOGY

Neural transcriptome of constitutional Pten dysfunction in mice and its relevance to human idiopathic autism spectrum disorder

(2015) A K Tilot et al.   MOLECULAR PSYCHIATRY

Immune mediators in the brain and peripheral tissues in autism spectrum disorder

(2015) Myka L. Estes et al.   NATURE REVIEWS NEUROSCIENCE

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

(2015) Yehezkel Ben-Ari   NATURE REVIEWS NEUROSCIENCE

GABAB Receptor Agonist R-Baclofen Reverses Social Deficits and Reduces Repetitive Behavior in Two Mouse Models of Autism

(2015) J L Silverman et al.   NEUROPSYCHOPHARMACOLOGY

Hippocampal dysregulation of FMRP/mGluR5 signaling in engrailed-2 knockout mice

(2015) Giovanni Provenzano et al.   NEUROREPORT

Paradoxical Benzodiazepine Response: A Rationale for Bumetanide in Neurodevelopmental Disorders?

(2015) H. Bruining et al.   PEDIATRICS

Evaluation of the neuroactive steroid ganaxolone on social and repetitive behaviors in the BTBR mouse model of autism

(2015) Tatiana M. Kazdoba et al.   PSYCHOPHARMACOLOGY

Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders

(2015) M. Sahin et al.   SCIENCE

Single-Gene Determinants of Epilepsy Comorbidity

(2015) Jeffrey L. Noebels   Cold Spring Harbor Perspectives in Medicine

Gene expression analysis in Fmr1KO mice identifies an immunological signature in brain tissue and mGluR5-related signaling in primary neuronal cultures

(2015) Daria Prilutsky et al.   Molecular Autism

Lack of parvalbumin in mice leads to behavioral deficits relevant to all human autism core symptoms and related neural morphofunctional abnormalities

(2015) M Wöhr et al.   Translational Psychiatry

Modeling a Genetic Risk for Schizophrenia in iPSCs and Mice Reveals Neural Stem Cell Deficits Associated with Adherens Junctions and Polarity

(2014) Ki-Jun Yoon et al.   Cell Stem Cell

A potential effect of ganaxolone in an animal model of infantile spasms

(2014) Mi-Sun Yum et al.   EPILEPSY RESEARCH

Increased power of resting-state gamma oscillations in autism spectrum disorder detected by routine electroencephalography

(2014) Eric van Diessen et al.   EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE

Hippocampal Dysregulation of Neurofibromin-Dependent Pathways Is Associated with Impaired Spatial Learning in Engrailed 2 Knock-Out Mice

(2014) G. Provenzano et al.   JOURNAL OF NEUROSCIENCE

Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity

(2014) J Ellegood et al.   MOLECULAR PSYCHIATRY

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Enhancement of Inhibitory Neurotransmission by GABA A Receptors Having α 2,3 -Subunits Ameliorates Behavioral Deficits in a Mouse Model of Autism

(2014) Sung Han et al.   NEURON

Reduced Cognition in Syngap1 Mutants Is Caused by Isolated Damage within Developing Forebrain Excitatory Neurons

(2014) Emin D. Ozkan et al.   NEURON

The GABA excitatory/inhibitory developmental sequence: A personal journey

(2014) Y. Ben-Ari   NEUROSCIENCE

Oxytocin-Mediated GABA Inhibition During Delivery Attenuates Autism Pathogenesis in Rodent Offspring

(2014) R. Tyzio et al.   SCIENCE

Treating Fragile X syndrome with the diuretic bumetanide: a case report

(2013) Eric Lemonnier et al.   ACTA PAEDIATRICA

GABAergic synaptic inputs of locus coeruleus neurons in wild-type and Mecp2-null mice

(2013) Xin Jin et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Time-dependent modulation of GABAA-ergic synaptic transmission by allopregnanolone in locus coeruleus neurons of Mecp2-null mice

(2013) Xin Jin et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Subventricular zone cytoarchitecture changes in Autism

(2013) Prasanti Kotagiri et al.   Developmental Neurobiology

Loss of GABAergic neurons in the hippocampus and cerebral cortex of Engrailed-2 null mutant mice: Implications for autism spectrum disorders

(2013) Paola Sgadò et al.   EXPERIMENTAL NEUROLOGY

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

(2013) Kihoon Han et al.   NATURE

Chloride extrusion enhancers as novel therapeutics for neurological diseases

(2013) Martin Gagnon et al.   NATURE MEDICINE

Autism-Associated Neuroligin-3 Mutations Commonly Disrupt Tonic Endocannabinoid Signaling

(2013) Csaba Földy et al.   NEURON

CYFIP1 Coordinates mRNA Translation and Cytoskeleton Remodeling to Ensure Proper Dendritic Spine Formation

(2013) Silvia De Rubeis et al.   NEURON

In utero exposure to valproic acid and autism — A current review of clinical and animal studies

(2013) Florence I. Roullet et al.   NEUROTOXICOLOGY AND TERATOLOGY

Novel designer receptors to probe GPCR signaling and physiology

(2013) Jürgen Wess et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

Transcriptome profiling in engrailed-2 mutant mice reveals common molecular pathways associated with autism spectrum disorders

(2013) Paola Sgadò et al.   Molecular Autism

Mechanisms of Gamma Oscillations

(2012) György Buzsáki et al.   Annual Review of Neuroscience

Autism-related behavioral abnormalities in synapsin knockout mice

(2012) Barbara Greco et al.   BEHAVIOURAL BRAIN RESEARCH

Bumetanide reduces seizure frequency in patients with temporal lobe epilepsy

(2012) Sanaz Eftekhari et al.   EPILEPSIA

Neuroethologically delineated differences in the seizure behavior of Synapsin 1 and Synapsin 2 knock-out mice

(2012) Lars Etholm et al.   EPILEPSY RESEARCH

mGluR antagonists and GABA agonists as novel pharmacological agents for the treatment of autism spectrum disorders

(2012) Lindsay M Oberman   EXPERT OPINION ON INVESTIGATIONAL DRUGS

Impairment of cortical GABAergic synaptic transmission in an environmental rat model of autism

(2012) Anwesha Banerjee et al.   INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY

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

(2012) Sung Han et al.   NATURE

Interneuron dysfunction in psychiatric disorders

(2012) Oscar Marín   NATURE REVIEWS NEUROSCIENCE

Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice

(2012) Aubin Michalon et al.   NEURON

The brain GABA-benzodiazepine receptor alpha-5 subtype in autism spectrum disorder: A pilot [11C]Ro15-4513 positron emission tomography study

(2012) Maria Andreina Mendez et al.   NEUROPHARMACOLOGY

The Therapeutic effect of Memantine through the Stimulation of Synapse Formation and Dendritic Spine Maturation in Autism and Fragile X Syndrome

(2012) Hongen Wei et al.   PLoS One

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

(2012) G. Novarino et al.   SCIENCE

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

Decreased Tonic Inhibition in Cerebellar Granule Cells Causes Motor Dysfunction in a Mouse Model of Angelman Syndrome

(2012) K. Egawa et al.   Science Translational Medicine

A randomised controlled trial of bumetanide in the treatment of autism in children

(2012) E Lemonnier et al.   Translational Psychiatry

Epilepsy as a Neurodevelopmental Disorder

(2012) Yuri Bozzi et al.   Frontiers in Psychiatry

Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans

(2011) Hirotaka Tao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Metabotropic Glutamate Receptor 5 Upregulation in Children with Autism is Associated with Underexpression of Both Fragile X Mental Retardation Protein and GABAA Receptor Beta 3 in Adults with Autism

(2011) S. Hossein Fatemi et al.   Anatomical Record-Advances in Integrative Anatomy and Evolutionary Biology

Mechanisms of Inhibition within the Telencephalon: “Where the Wild Things Are”

(2011) Gord Fishell et al.   Annual Review of Neuroscience

Pharmacologic Rescue of Impaired Cognitive Flexibility, Social Deficits, Increased Aggression, and Seizure Susceptibility in Oxytocin Receptor Null Mice: A Neurobehavioral Model of Autism

(2011) Mariaelvina Sala et al.   BIOLOGICAL PSYCHIATRY

Decreased benzodiazepine receptor and increased GABA level in cortical tubers in tuberous sclerosis complex

(2011) Kenji Mori et al.   BRAIN & DEVELOPMENT

Evaluation of the GABAergic nervous system in autistic brain: 123I-iomazenil SPECT study

(2011) Tatsuo Mori et al.   BRAIN & DEVELOPMENT

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

Etiology of a genetically complex seizure disorder in Celf4 mutant mice

(2011) J. L. Wagnon et al.   GENES BRAIN AND BEHAVIOR

A Blueprint for the Spatiotemporal Origins of Mouse Hippocampal Interneuron Diversity

(2011) L. Tricoire et al.   JOURNAL OF NEUROSCIENCE

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

(2011) Lauren T Gehman et al.   NATURE GENETICS

Dysregulation of fragile × mental retardation protein and metabotropic glutamate receptor 5 in superior frontal cortex of individuals with autism: a postmortem brain study

(2011) S Hossein Fatemi et al.   Molecular Autism

Somatosensory and sensorimotor consequences associated with the heterozygous disruption of the autism candidate gene, Gabrb3

(2010) Timothy M. DeLorey et al.   BEHAVIOURAL BRAIN RESEARCH

Reduced GABA A receptors and benzodiazepine binding sites in the posterior cingulate cortex and fusiform gyrus in autism

(2010) Adrian L. Oblak et al.   BRAIN RESEARCH

Three groups of interneurons account for nearly 100% of neocortical GABAergic neurons

(2010) Bernardo Rudy et al.   Developmental Neurobiology

Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of Tuberous Sclerosis Complex

(2010) L.-H. Zeng et al.   HUMAN MOLECULAR GENETICS

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

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

(2010) Hsiao-Tuan Chao et al.   NATURE

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus

(2010) Nicole A. Hawkins et al.   NEUROBIOLOGY OF DISEASE

Parvalbumin-, calbindin-, and calretinin-immunoreactive hippocampal interneuron density in autism

(2009) Y. A. Lawrence et al.   ACTA NEUROLOGICA SCANDINAVICA

Common circuit defect of excitatory-inhibitory balance in mouse models of autism

(2009) Nadine Gogolla et al.   Journal of Neurodevelopmental Disorders

A Triplet Repeat Expansion Genetic Mouse Model of Infantile Spasms Syndrome, Arx(GCG)10+7, with Interneuronopathy, Spasms in Infancy, Persistent Seizures, and Adult Cognitive and Behavioral Impairment

(2009) M. G. Price et al.   JOURNAL OF NEUROSCIENCE

Increased susceptibility to kainic acid–induced seizures in Engrailed-2 knockout mice

(2009) P.P. Tripathi et al.   NEUROSCIENCE

Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS)

(2008) Charlotte D'Hulst et al.   BRAIN RESEARCH

Downregulation of Tonic GABAergic Inhibition in a Mouse Model of Fragile X Syndrome

(2008) Giulia Curia et al.   CEREBRAL CORTEX

Decreased number of interneurons and increased seizures in neuropilin 2 deficient mice: Implications for autism and epilepsy

(2008) John C. Gant et al.   EPILEPSIA

Imbalance of Neocortical Excitation and Inhibition and Altered UP States Reflect Network Hyperexcitability in the Mouse Model of Fragile X Syndrome

(2008) Jay R. Gibson et al.   JOURNAL OF NEUROPHYSIOLOGY

Petilla terminology: nomenclature of features of GABAergic interneurons of the cerebral cortex

(2008)   NATURE REVIEWS NEUROSCIENCE

Fragile X Syndrome: Loss of Local mRNA Regulation Alters Synaptic Development and Function

(2008) Gary J. Bassell et al.   NEURON

Abnormal Striatal GABA Transmission in the Mouse Model for the Fragile X Syndrome

(2007) Diego Centonze et al.   BIOLOGICAL PSYCHIATRY

The MeCP2-null mouse hippocampus displays altered basal inhibitory rhythms and is prone to hyperexcitability

(2007) Liang Zhang et al.   HIPPOCAMPUS

Early Defects of GABAergic Synapses in the Brain Stem of a MeCP2 Mouse Model of Rett Syndrome

(2007) L. Medrihan et al.   JOURNAL OF NEUROPHYSIOLOGY