Electrophysiological and Behavioral Evidence for Hyper- and Hyposensitivity in Rare Genetic Syndromes Associated with Autism

Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort

(2022) Elizabeth Berry-Kravis et al.   Frontiers in Pediatrics

Left hemispheric deficit in the sustained neuromagnetic response to periodic click trains in children with ASD

(2021) T. A. Stroganova et al.   Molecular Autism

40-Hz Auditory Steady-State Response (ASSR) as a Biomarker of Genetic Defects in the SHANK3 Gene: A Case Report of 15-Year-Old Girl with a Rare Partial SHANK3 Duplication

(2021) Anastasia K. Neklyudova et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Increased aperiodic gamma power in young boys with Fragile X Syndrome is associated with better language ability

(2021) Carol L. Wilkinson et al.   Molecular Autism

Reviewing Evidence for the Relationship of EEG Abnormalities and RTT Phenotype Paralleled by Insights from Animal Studies

(2021) Kirill Smirnov et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome

(2021) Michael. G. Mariscal et al.   Molecular Autism

Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I

(2021) Jannath Begum-Ali et al.   Journal of Neurodevelopmental Disorders

Visual Evoked Potential Abnormalities in Phelan-McDermid Syndrome

(2021) Paige M. Siper et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Social Deficits and Repetitive Behaviors Are Improved by Early Postnatal Low-Dose VPA Intervention in a Novel shank3-Deficient Zebrafish Model

(2021) Chunxue Liu et al.   Frontiers in Neuroscience

Sensory Reactivity Phenotype in Phelan–McDermid Syndrome Is Distinct from Idiopathic ASD

(2021) Teresa Tavassoli et al.   Genes

Age-related changes in the EEG in an eyes-open condition: I. Normal development

(2021) Lynnette M. Mason et al.   INTERNATIONAL JOURNAL OF PSYCHOPHYSIOLOGY

Comparison of resting-state EEG between adults with Down syndrome and typically developing controls

(2021) Sarah Hamburg et al.   Journal of Neurodevelopmental Disorders

Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome

(2021) Siddharth Srivastava et al.   Journal of Neurodevelopmental Disorders

Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications

(2021) Jan Philipp Delling et al.   Journal of Neurodevelopmental Disorders

Hippocampal gamma and sharp-wave ripple oscillations are altered in a Cntnap2 mouse model of autism spectrum disorder

(2021) Rosalia Paterno et al.   Cell Reports

Dysfunction of cortical GABAergic neurons leads to sensory hyper-reactivity in a Shank3 mouse model of ASD

(2020) Qian Chen et al.   NATURE NEUROSCIENCE

Multielectrode array analysis of EEG biomarkers in a mouse model of Fragile X Syndrome

(2020) Carrie R. Jonak et al.   NEUROBIOLOGY OF DISEASE

Auditory steady‐state response at 20 Hz and 40 Hz in young typically developing children and children with autism spectrum disorder

(2020) Yasuki Ono et al.   PSYCHIATRY AND CLINICAL NEUROSCIENCES

Auditory Processing of Speech and Tones in Children With Tuberous Sclerosis Complex

(2020) Amanda M. O’Brien et al.   Frontiers in Integrative Neuroscience

Resting state EEG power research in Attention-Deficit/Hyperactivity Disorder: A review update

(2020) Adam R. Clarke et al.   CLINICAL NEUROPHYSIOLOGY

Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment

(2020) Marius Keute et al.   MOLECULAR PSYCHIATRY

Atypical processing of tones and phonemes in Rett Syndrome as biomarkers of disease progression

(2020) Olga V. Sysoeva et al.   Translational Psychiatry

Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics

(2020) Jessie De Ridder et al.   Frontiers in Neurology

Cortical Auditory Processing of Simple Stimuli is Altered in Autism: A Meta-analysis of Auditory Evoked Responses

(2020) Zachary J. Williams et al.   Biological Psychiatry-Cognitive Neuroscience and Neuroimaging

Distinct patterns of repetition suppression in Fragile X syndrome, down syndrome, tuberous sclerosis complex and mutations in SYNGAP1

(2020) Valérie Côté et al.   BRAIN RESEARCH

Electrophysiological phenotype in Angelman syndrome differs between genotypes

(2019) Joel Frohlich et al.   BIOLOGICAL PSYCHIATRY

Excitation-inhibition balance as a framework for investigating mechanisms in neuropsychiatric disorders

(2019) Vikaas S. Sohal et al.   MOLECULAR PSYCHIATRY

Toward a pathway driven clinical-molecular framework for classifying autism spectrum disorders

(2019) Catherine A. Ziats et al.   PEDIATRIC NEUROLOGY

Auditory sensory memory span for duration is severely curtailed in females with Rett syndrome

(2019) Tufikameni Brima et al.   Translational Psychiatry

Electroencephalographic spectral power as a marker of cortical function and disease severity in girls with Rett syndrome

(2019) Katherine J. Roche et al.   Journal of Neurodevelopmental Disorders

Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study

(2019) Romina Moavero et al.   Journal of Clinical Medicine

Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex

(2019) Abigail Dickinson et al.   Autism Research

Epilepsy in neurofibromatosis type 1: Diffuse cerebral dysfunction?

(2019) Esra Serdaroglu et al.   EPILEPSY & BEHAVIOR

Genetic Causes and Modifiers of Autism Spectrum Disorder

(2019) Lauren Rylaarsdam et al.   Frontiers in Cellular Neuroscience

Delayed M50/M100 evoked response component latency in minimally verbal/nonverbal children who have autism spectrum disorder

(2019) Timothy P. L. Roberts et al.   Molecular Autism

Cannabidiol attenuates seizures and EEG abnormalities in Angelman syndrome model mice

(2019) Bin Gu et al.   JOURNAL OF CLINICAL INVESTIGATION

Visual Behavior Impairments as an Aberrant Sensory Processing in the Mouse Model of Fragile X Syndrome

(2019) Chloé Felgerolle et al.   Frontiers in Behavioral Neuroscience

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care

(2019) Nicholas M. P. Annear et al.   Frontiers in Neurology

Auditory EEG Biomarkers in Fragile X Syndrome: Clinical Relevance

(2019) Lauren E. Ethridge et al.   Frontiers in Integrative Neuroscience

Sensory evoked potentials in patients with Rett syndrome through the lens of animal studies: Systematic review

(2019) Olga V. Sysoeva et al.   CLINICAL NEUROPHYSIOLOGY

Reduced visual evoked potential amplitude in autism spectrum disorder, a variability effect?

(2019) Klara Kovarski et al.   Translational Psychiatry

T185. Electrophysiological Evidence of Auditory Habituation Abnormalities in Young Adults With Phelan-Mcdermid Syndrome

(2018) Emily Isenstein et al.   BIOLOGICAL PSYCHIATRY

Role of inter-trial phase coherence in atypical auditory evoked potentials to speech and nonspeech stimuli in children with autism

(2018) Luodi Yu et al.   CLINICAL NEUROPHYSIOLOGY

Prospective longitudinal overnight video-EEG evaluation in Phelan–McDermid Syndrome

(2018) Omar I. Khan et al.   EPILEPSY & BEHAVIOR

Translation-relevant EEG phenotypes in a mouse model of Fragile X Syndrome

(2018) Jonathan W. Lovelace et al.   NEUROBIOLOGY OF DISEASE

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

(2018) Silvia De Rubeis et al.   Molecular Autism

Sensory Processing Phenotypes in Fragile X Syndrome

(2018) Maham Rais et al.   ASN Neuro

A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants

(2018) Monica Sonzogni et al.   Molecular Autism

22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype

(2018) Ponson Laura et al.   Translational Psychiatry

Feasibility of using auditory event-related potentials to investigate learning and memory in nonverbal individuals with Angelman syndrome

(2018) Alexandra P. Key et al.   BRAIN AND COGNITION

GABA Neuronal Deletion of Shank3 Exons 14–16 in Mice Suppresses Striatal Excitatory Synaptic Input and Induces Social and Locomotor Abnormalities

(2018) Taesun Yoo et al.   Frontiers in Cellular Neuroscience

Electrophysiological evidence for abnormal glutamate-GABA association following psychosis onset

(2018) Daisuke Koshiyama et al.   Translational Psychiatry

UBE3A and Its Link With Autism

(2018) Naman Vatsa et al.   Frontiers in Molecular Neuroscience

Developmental Changes in EEG Phenotypes in a Mouse Model of Fragile X Syndrome

(2018) Teresa H. Wen et al.   NEUROSCIENCE

Decreased surface expression of the δ subunit of the GABA A receptor contributes to reduced tonic inhibition in dentate granule cells in a mouse model of fragile X syndrome

(2017) Nianhui Zhang et al.   EXPERIMENTAL NEUROLOGY

Prevalence of neurofibromatosis type 1 in the Finnish population

(2017) Roope A Kallionpää et al.   GENETICS IN MEDICINE

Altered visual repetition suppression in Fragile X Syndrome: New evidence from ERPs and oscillatory activity

(2017) Simon Rigoulot et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

A resting EEG study of neocortical hyperexcitability and altered functional connectivity in fragile X syndrome

(2017) Jun Wang et al.   Journal of Neurodevelopmental Disorders

Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

(2017) Michael S. Sidorov et al.   Journal of Neurodevelopmental Disorders

Enhanced Nociception in Angelman Syndrome Model Mice

(2017) Eric S. McCoy et al.   JOURNAL OF NEUROSCIENCE

Tactile Defensiveness and Impaired Adaptation of Neuronal Activity in the Fmr1 Knock-Out Mouse Model of Autism

(2017) Cynthia X. He et al.   JOURNAL OF NEUROSCIENCE

Genetic and Molecular Regulation of Extrasynaptic GABA-A Receptors in the Brain: Therapeutic Insights for Epilepsy

(2017) Shu-Hui Chuang et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome)

(2017) Gillian Reierson et al.   JOURNAL OF PSYCHIATRIC RESEARCH

Sensory perception in autism

(2017) Caroline E. Robertson et al.   NATURE REVIEWS NEUROSCIENCE

Sensory processing in autism spectrum disorders and Fragile X syndrome—From the clinic to animal models

(2017) D. Sinclair et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Neuronal cytoskeletal gene dysregulation and mechanical hypersensitivity in a rat model of Rett syndrome

(2017) Aritra Bhattacherjee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Early development of infants with neurofibromatosis type 1: a case series

(2017) Anna May Kolesnik et al.   Molecular Autism

Conflict processing in juvenile patients with neurofibromatosis type 1 (NF1) and healthy controls – Two pathways to success

(2017) Annet Bluschke et al.   NeuroImage-Clinical

Longitudinal course of epilepsy in Rett syndrome and related disorders

(2016) Daniel C. Tarquinio et al.   BRAIN

The spectrum of epilepsy and electroencephalographic abnormalities due toSHANK3loss-of-function mutations

(2016) J. Lloyd Holder et al.   EPILEPSIA

Automatic cortical representation of auditory pitch changes in Rett syndrome

(2016) John J. Foxe et al.   Journal of Neurodevelopmental Disorders

Lessons learned from studying syndromic autism spectrum disorders

(2016) Yehezkel Sztainberg et al.   NATURE NEUROSCIENCE

Angelman syndrome — insights into a rare neurogenetic disorder

(2016) Karin Buiting et al.   Nature Reviews Neurology

GABA deficiency in NF1

(2016) Inês R. Violante et al.   NEUROLOGY

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

(2016) Matthew C. Judson et al.   NEURON

40 Hz Auditory Steady-State Response Is a Pharmacodynamic Biomarker for Cortical NMDA Receptors

(2016) Digavalli V Sivarao et al.   NEUROPSYCHOPHARMACOLOGY

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

Visual evoked potentials detect cortical processing deficits in Rett syndrome

(2015) Jocelyn J. LeBlanc et al.   ANNALS OF NEUROLOGY

Alterations in Cortical Network Oscillations and Parvalbumin Neurons in Schizophrenia

(2015) Guillermo Gonzalez-Burgos et al.   BIOLOGICAL PSYCHIATRY

Abnormal relationship between GABA, neurophysiology and impulsive behavior in neurofibromatosis type 1

(2015) Maria J. Ribeiro et al.   CORTEX

Visual Evoked Potentials as a Readout of Cortical Function in Infants With Tuberous Sclerosis Complex

(2015) Kandice J. Varcin et al.   JOURNAL OF CHILD NEUROLOGY

Autism diagnosis differentiates neurophysiological responses to faces in adults with tuberous sclerosis complex

(2015) Charlotte Tye et al.   Journal of Neurodevelopmental Disorders

Age-Related Changes in 1/f Neural Electrophysiological Noise

(2015) B. Voytek et al.   JOURNAL OF NEUROSCIENCE

Epidemiology of Rett Syndrome in Serbia: Prevalence, Incidence and Survival

(2015) Adrijan Sarajlija et al.   NEUROEPIDEMIOLOGY

A Role for Diminished GABA Transporter Activity in the Cortical Discharge Phenotype of MeCP2-Deficient Mice

(2015) Liang Zhang et al.   NEUROPSYCHOPHARMACOLOGY

Phelan–McDermid Syndrome and SHANK3: Implications for Treatment

(2015) Jesse L. Costales et al.   Neurotherapeutics

Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes

(2015) Louisa Kalsner et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Mismatch Negativity (MMN) as an Index of Cognitive Dysfunction

(2014) Risto Näätänen et al.   BRAIN TOPOGRAPHY

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

Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome

(2014) Sara M. Sarasua et al.   HUMAN GENETICS

Alterations of visual and auditory evoked potentials in fragile X syndrome

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

Electrophysiological measures of low-level vision reveal spatial processing deficits and hemispheric asymmetry in autism spectrum disorder

(2014) F. Pei et al.   JOURNAL OF VISION

Interneuron cell types are fit to function

(2014) Adam Kepecs et al.   NATURE

Pharmacotherapy of Attention Deficit in Neurofibromatosis Type 1: Effects on Cognition

(2014) Sofia Granstroem et al.   NEUROPEDIATRICS

Auditory Processing in Fragile X Syndrome

(2014) Sarah E. Rotschafer et al.   Frontiers in Cellular Neuroscience

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

(2014) Claire S. Leblond et al.   PLoS Genetics

Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders

(2014) Chia-Hsiang Chen et al.   Molecular Autism

The Mechanisms and Meaning of the Mismatch Negativity

(2013) Yonatan I. Fishman   BRAIN TOPOGRAPHY

Therapeutic approaches for shankopathies

(2013) Xiaoming Wang et al.   Developmental Neurobiology

Rescue of behavioral and EEG deficits in male and female Mecp2-deficient mice by delayed Mecp2 gene reactivation

(2013) M. Lang et al.   HUMAN MOLECULAR GENETICS

Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders

(2013) Li Zhu et al.   HUMAN MOLECULAR GENETICS

CNVs conferring risk of autism or schizophrenia affect cognition in controls

(2013) Hreinn Stefansson et al.   NATURE

Excitatory/Inhibitory Synaptic Imbalance Leads to Hippocampal Hyperexcitability in Mouse Models of Tuberous Sclerosis

(2013) Helen S. Bateup et al.   NEURON

Neurologic Manifestations of Angelman Syndrome

(2013) Ronald L. Thibert et al.   PEDIATRIC NEUROLOGY

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

(2013) Latha Soorya et al.   Molecular Autism

Analysis of EEG patterns and genotypes in patients with Angelman syndrome

(2012) Martina Vendrame et al.   EPILEPSY & BEHAVIOR

Electroencephalography of response inhibition tasks: Functional networks and cognitive contributions

(2012) René J. Huster et al.   INTERNATIONAL JOURNAL OF PSYCHOPHYSIOLOGY

Atypical Face Processing in Children With Tuberous Sclerosis Complex

(2012) Shafali Spurling Jeste et al.   JOURNAL OF CHILD NEUROLOGY

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

Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex

(2012) Atsushi Sato et al.   Nature Communications

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

(2011) Kenji Mori et al.   BRAIN & DEVELOPMENT

Auditory change detection in fragile X syndrome males: A brain potential study

(2011) M.J.W. Van der Molen et al.   CLINICAL NEUROPHYSIOLOGY

Auditory and visual cortical activity during selective attention in fragile X syndrome: A cascade of processing deficiencies

(2011) M.J.W. Van der Molen et al.   CLINICAL NEUROPHYSIOLOGY

Fragile X Syndrome: The GABAergic System and Circuit Dysfunction

(2011) Scott M. Paluszkiewicz et al.   DEVELOPMENTAL NEUROSCIENCE

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)

(2011) S. M. Sarasua et al.   JOURNAL OF MEDICAL GENETICS

Electrophysiological findings in neurofibromatosis type 1

(2011) Deniz Yerdelen et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses

(2011) Darren Goffin et al.   NATURE NEUROSCIENCE

Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex

(2011) A. L. Numis et al.   NEUROLOGY

Differential responses of primary auditory cortex in autistic spectrum disorder with auditory hypersensitivity

(2011) Junko Matsuzaki et al.   NEUROREPORT

Sensory Processing in Autism: A Review of Neurophysiologic Findings

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

Epilepsy in Rett syndrome: Association between phenotype and genotype, and implications for practice

(2011) Basil Cardoza et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

(2011) Angela M. Mabb et al.   TRENDS IN NEUROSCIENCES

LinkingMECP2and pain sensitivity: The example of Rett syndrome

(2010) Jenny Downs et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

VISUAL FUNCTION IN RETT SYNDROME

(2010) K. J. Saunders et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Clinical and genetic aspects of neurofibromatosis 1

(2010) Kimberly Jett et al.   GENETICS IN MEDICINE

Comparison of multi-subject ICA methods for analysis of fMRI data

(2010) Erik Barry Erhardt et al.   HUMAN BRAIN MAPPING

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

(2010) Jennifer K. Gentile et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Mental, Motor, and Language Development of Toddlers with Neurofibromatosis Type 1

(2010) Jennifer Lorenzo et al.   JOURNAL OF PEDIATRICS

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

(2010) Hsiao-Tuan Chao et al.   NATURE

A case of Rett syndrome with reduced pain sensitivity

(2010) Krishna M Devarakonda et al.   PEDIATRIC ANESTHESIA

Mismatch negativity (MMN), the deviance-elicited auditory deflection, explained

(2009) Patrick J. C. May et al.   PSYCHOPHYSIOLOGY

Origins of Epilepsy in Fragile X Syndrome

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

Co-occurring conditions associated withFMR1gene variations: Findings from a national parent survey

(2008) Donald B. Bailey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Reversal of sensorimotor gating abnormalities in Fmr1 knockout mice carrying a human Fmr1 transgene.

(2008) Richard Paylor et al.   BEHAVIORAL NEUROSCIENCE

Neurofibromin Regulation of ERK Signaling Modulates GABA Release and Learning

(2008) Yijun Cui et al.   CELL

Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism

(2008) C. S. Loat et al.   GENES BRAIN AND BEHAVIOR

Prestimulus Oscillatory Activity in the Alpha Band Predicts Visual Discrimination Ability

(2008) H. van Dijk et al.   JOURNAL OF NEUROSCIENCE

MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription

(2008) M. Chahrour et al.   SCIENCE

Aberrant somatosensory-evoked responses imply GABAergic dysfunction in Angelman syndrome

(2007) Kiyoshi Egawa et al.   NEUROIMAGE