Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia

The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders

(2015) Sien Braat et al.   NEURON

The WNK-regulated SPAK/OSR1 kinases directly phosphorylate and inhibit the K+–Cl−co-transporters

(2014) Paola de los Heros et al.   BIOCHEMICAL JOURNAL

Psychiatric Disorders: Diagnosis to Therapy

(2014) John H. Krystal et al.   CELL

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

(2014) K. T. Kahle et al.   EMBO REPORTS

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation

(2014) M. Puskarjov et al.   EMBO REPORTS

The Developmental Switch in GABA Polarity Is Delayed in Fragile X Mice

(2014) Q. He et al.   JOURNAL OF NEUROSCIENCE

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Cation-chloride cotransporters in neuronal development, plasticity and disease

(2014) Kai Kaila et al.   NATURE REVIEWS NEUROSCIENCE

Neurodevelopment, GABA System Dysfunction and Schizophrenia

(2014) Martin J Schmidt et al.   NEUROPSYCHOPHARMACOLOGY

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

(2014) R. Tyzio et al.   SCIENCE

A de novo convergence of autism genetics and molecular neuroscience

(2014) Niklas Krumm et al.   TRENDS IN NEUROSCIENCES

Current view on the functional regulation of the neuronal K+-Cl− cotransporter KCC2

(2014) Igor Medina et al.   Frontiers in Cellular Neuroscience

Modulation of GABAergic transmission in development and neurodevelopmental disorders: investigating physiology and pathology to gain therapeutic perspectives

(2014) Gabriele Deidda et al.   Frontiers in Cellular Neuroscience

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

(2013) Eric Lemonnier et al.   ACTA PAEDIATRICA

Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts

(2013) Kenneth B. Gagnon et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

The Epilepsy Phenome/Genome Project

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Modulation of neuronal activity by phosphorylation of the K–Cl cotransporter KCC2

(2013) Kristopher T. Kahle et al.   TRENDS IN NEUROSCIENCES

The genetic variability and commonality of neurodevelopmental disease

(2012) Bradley P. Coe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Hyperpolarizing GABAergic Transmission Requires the KCC2 C-Terminal ISO Domain

(2012) B. A. Acton et al.   JOURNAL OF NEUROSCIENCE

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

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

GABA system dysfunction in autism and related disorders: From synapse to symptoms

(2012) Suzanne Coghlan et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Role of the neuronal K-Cl co-transporter KCC2 in inhibitory and excitatory neurotransmission

(2012) Ingrid Chamma et al.   Frontiers in Cellular Neuroscience

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

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Epilepsy as a Neurodevelopmental Disorder

(2012) Yuri Bozzi et al.   Frontiers in Psychiatry

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Altered inhibition in tuberous sclerosis and type IIb cortical dysplasia

(2011) Delia M. Talos et al.   ANNALS OF NEUROLOGY

Two types of chloride transporters are required for GABAAreceptor-mediated inhibition inC. elegans

(2011) Andrew Bellemer et al.   EMBO JOURNAL

Bidirectional relation between schizophrenia and epilepsy: A population-based retrospective cohort study

(2011) Yu-Tzu Chang et al.   EPILEPSIA

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

Exome sequencing supports a de novo mutational paradigm for schizophrenia

(2011) Bin Xu et al.   NATURE GENETICS

Increased exonic de novo mutation rate in individuals with schizophrenia

(2011) Simon L Girard et al.   NATURE GENETICS

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

(2011) Sarah R. Gilman et al.   NEURON

Cortical parvalbumin interneurons and cognitive dysfunction in schizophrenia

(2011) David A. Lewis et al.   TRENDS IN NEUROSCIENCES

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

(2010) Erin L. Heinzen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

(2010) Philip Awadalla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Epilepsy and autism spectrum disorders: Are there common developmental mechanisms?

(2010) Amy Brooks-Kayal   BRAIN & DEVELOPMENT

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

(2010) Hsiao-Tuan Chao et al.   NATURE

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

I-TASSER: a unified platform for automated protein structure and function prediction

(2010) Ambrish Roy et al.   Nature Protocols

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

(2010) Gerald D. Fischbach et al.   NEURON

De novo mutations in the gene encoding the synaptic scaffolding proteinSHANK3in patients ascertained for schizophrenia

(2010) Julie Gauthier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

(2009) Audrey Guilmatre et al.   ARCHIVES OF GENERAL PSYCHIATRY

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

Seizure Sensitivity Is Ameliorated by Targeted Expression of K+-Cl- Cotransporter Function in the Mushroom Body of the Drosophila Brain

(2009) D. S. Hekmat-Scafe et al.   GENETICS

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

(2009) H. C. Mefford et al.   GENOME RESEARCH

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

(2009) George Kirov et al.   HUMAN MOLECULAR GENETICS

The Potassium Chloride Cotransporter KCC-2 Coordinates Development of Inhibitory Neurotransmission and Synapse Structure in Caenorhabditis elegans

(2009) J. E. Tanis et al.   JOURNAL OF NEUROSCIENCE

The human colon cancer methylome shows similar hypo- and hypermethylation at conserved tissue-specific CpG island shores

(2009) Rafael A Irizarry et al.   NATURE GENETICS

Cation-Chloride Cotransporters and Neuronal Function

(2009) Peter Blaesse et al.   NEURON

Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation

(2009) Fadi F. Hamdan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Power of deep, all-exon resequencing for discovery of human trait genes

(2009) G. V. Kryukov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Making sense of nonsense GABAA receptor mutations associated with genetic epilepsies

(2009) Jing-Qiong Kang et al.   TRENDS IN MOLECULAR MEDICINE

Neurofibromin Regulation of ERK Signaling Modulates GABA Release and Learning

(2008) Yijun Cui et al.   CELL

NKCC1 and KCC2 prevent hyperexcitability in the mouse hippocampus

(2008) Lei Zhu et al.   EPILEPSY RESEARCH

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

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