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

Epigenetic Regulations of GABAergic Neurotransmission: Relevance for Neurological Disorders and Epigenetic Therapy

Shrestha, S., & Offer, S. M. (2016) · Medical Epigenetics · doi:10.1159/000444713 · Cited by 8,951

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990

Cre reporter strains produced by targeted insertion of EYFP and ECFP into the ROSA26 locus

Srinivas, S., Watanabe, T., Lin, C.-S., William, C. M., Tanabe, Y., Jessell, T. M., & Costantini, F. (2001) · BMC Developmental Biology · doi:10.1186/1471-213x-1-4 · Cited by 3,121

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

Guy, J., Hendrich, B., Holmes, M., Martin, J. E., & Bird, A. (2001) · Nature Genetics · doi:10.1038/85899 · Cited by 1,558

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases

Hagberg, B. A., Aicardi, J. F., Dias, K., & Ramos, O. (1983) · Annals of Neurology · doi:10.1002/ana.410140412 · Cited by 1,515

DNA Methylation-Related Chromatin Remodeling in Activity-Dependent Bdnf Gene Regulation

Martinowich, K., Hattori, D., Wu, H., Fouse, S., He, F., Hu, Y., Fan, G., & Sun, Y. E. (2003) · Science · doi:10.1126/science.1090842 · Cited by 1,405

Subregion- and Cell Type–Restricted Gene Knockout in Mouse Brain

Tsien, J. Z., Chen, D. F., Gerber, D., Tom, C., Mercer, E. H., Anderson, D. J., Mayford, M., Kandel, E. R., & Tonegawa, S. (1996) · Cell · doi:10.1016/s0092-8674(00)81826-7 · Cited by 1,280

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

Chen, R. Z., Akbarian, S., Tudor, M., & Jaenisch, R. (2001) · Nature Genetics · doi:10.1038/85906 · Cited by 1,275

The Story of Rett Syndrome: From Clinic to Neurobiology

Chahrour, M., & Zoghbi, H. Y. (2007) · Neuron · doi:10.1016/j.neuron.2007.10.001 · Cited by 1,265

Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

Chen, W. G., Chang, Q., Lin, Y., Meissner, A., West, A. E., Griffith, E. C., Jaenisch, R., & Greenberg, M. E. (2003) · Science · doi:10.1126/science.1086446 · Cited by 1,232

Autism: Animal Models

Bauman, M. D., Crawley, J. N., & Berman, R. F. (2010) · Wiley eBooks · doi:10.1002/9780470015902.a0022368 · Cited by 5

Sh3rf3 Deficiency drives autism-like behaviors via presynaptic dysfunction in mice

Yuan, Y., Li, Y., Yang, F., Jiang, Y., Ding, Y., Xiao, Y., Zhu, X., Shu, X., Huang, X., Wang, Y., et al. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-03370-w · Cited by 6

Synaptic Plasticity in the Hippocampus

Bliss, T., Collingridge, G. L., Cooke, S. F., Georgiou, J., & Morris, R. (2025) · Oxford University Press eBooks · doi:10.1093/med/9780190065324.003.0010 · Cited by 4

Higher hyperpolarization-activated current in a subpopulation of interneurons in stratum oriens of area CA1 in the hippocampus of fragile X mice

Hewitt, L. T., Marron, A. M., & Brager, D. H. (2025) · Journal of Neurophysiology · doi:10.1152/jn.00510.2024 · Cited by 5

Rett syndrome: advances in Understanding MeCP2 function, potential gene therapies, and public health implications

Ali, N. E., Tariq, N., Naz, G., Abalkhail, A., Kausar, T., Mazhar, I., Zia, S. K., Aqib, A. I., & Khan, N. U. (2025) · Molecular Biology Reports · doi:10.1007/s11033-025-10802-x · Cited by 5

Metabolomics and transcriptomics analysis of prefrontal cortex in the Pax2 neuron-specific deletion mice

Li, R., Tang, J., Wang, Y., Wang, Y., Yang, H., & Wei, H. (2023) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2023.110858 · Cited by 4

LTP is Absent in the CA1 Region of the Hippocampus of Male and Female Rett Syndrome Mouse Models

Asgarihafshejani, A., Raveendran, V. A., Pressey, J. C., & Woodin, M. A. (2023) · Neuroscience · doi:10.1016/j.neuroscience.2023.11.028 · Cited by 4

Human-Induced Pluripotent Stem Cell (iPSC)-Derived GABAergic Neuron Differentiation in Bipolar Disorder

Schill, D. J., Attili, D., DeLong, C. J., McInnis, M. G., Johnson, C. N., Murphy, G. G., & O’Shea, K. S. (2024) · Cells · doi:10.3390/cells13141194 · Cited by 4

Rett Syndrome: A Model of Genetic Neurodevelopmental Disorders

Christopher, A., Lane, J. B., Pozzo‐Miller, L. D., & Alan, K. (2013) · InTech eBooks · doi:10.5772/53075 · Cited by 4

Clozapine Might Relieve Rhinotillexomania and Related Epistaxis in Schizophrenia Patients: A Case Report

Chu, C., & Liang, C. (2019) · American Journal of Therapeutics · doi:10.1097/mjt.0000000000000943 · Cited by 4

In vivo evidence for the cellular basis of central hypoventilation of Rett syndrome and pharmacological correction in the rat model

Wu, Y., Cui, N., Xing, H., Zhong, W., Arrowood, C. A., Johnson, C. M., & Jiang, C. L. (2021) · Journal of Cellular Physiology · doi:10.1002/jcp.30462 · Cited by 4

New insights into binocular rivalry from the reconstruction of evolving percepts using model network dynamics

Barkdoll, K., Lu, Y., & Barranca, V. J. (2023) · Frontiers in Computational Neuroscience · doi:10.3389/fncom.2023.1137015 · Cited by 5

Chromatin Structure and Intellectual Disability Syndromes

Elbert, A., & Nathalie, G. (2013) · InTech eBooks · doi:10.5772/55730 · Cited by 4

GABAergic Dysfunction in Autism and Epilepsy

Genovesi, S., Provenzano, G., Dunleavy, M., Sgadó, P., & Bozzi, Y. (2011) · InTech eBooks · doi:10.5772/17387 · Cited by 4

Reduced synaptic activity in neuronal networks derived from embryonic stem cells of murine Rett syndrome model

Barth, L., Sütterlin, R., Nenniger, M., & Vogt, K. E. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00079 · Cited by 4

Translational Dysregulation in Autism

Man, H. (2014) · Cell & Developmental Biology · doi:10.4172/2168-9296.1000e124 · Cited by 4

Inhibitory and Excitatory Systems in Autism Spectrum Disorders

Blatt, G. J. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-391924-3.00024-7 · Cited by 4

Neurobiology of Autism Spectrum Disorders

Martins, G. J. (2017) · Springer eBooks · doi:10.1007/978-3-319-42713-3_2 · Cited by 4

Serotonin Disturbance in Mouse Models of Autism Spectrum Disorders

Tamada, K., & Takumi, T. (2014) · Neuromethods · doi:10.1007/978-1-4939-2250-5_9 · Cited by 4

Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers

Ronen, G. M., Brady, L., & Tarnopolsky, M. A. (2016) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2016.10.012 · Cited by 4

Autism spectrum disorders

Roberts, T. P. L., Gandal, M. J., Siegel, S. J., Rodrigues, P. V., & Welsh, J. P. (2012) · Cambridge University Press eBooks · doi:10.1017/cbo9780511980053.017 · Cited by 5

The molecular basis of cognitive deficits in pervasive developmental disorders: Table 1.Preprint

Bhattacharya, A., & Klann, E. (2012) · Learning & Memory · doi:10.1101/lm.025007.111 · Cited by 4

Excitoprotective effects of conditional tau reduction in excitatory neurons and in adulthoodPreprint

Voskobiynyk, Y., Li, Z., Cochran, J. N., Davis, M. N., Carullo, N. V. N., Creed, R. B., Buckingham, S. C., Hall, A. M., Wilson, S. M., & Roberson, E. D. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.05.14.594246 · Cited by 3

Synaptic disturbance in neurodevelopmental disorders: Perspectives from fragile X and Rett syndromes

Li, R., Anzai, M., Shibata, A., & Ito, A. (2025) · Brain and Development · doi:10.1016/j.braindev.2025.104358 · Cited by 5

The association between infant EEG aperiodic exponent and the trajectory of restricted and repetitive behaviors for toddlers with and without autism

Chung, H., Said, A. J., Tager-Flusberg, H. B., Nelson, C. A., & Wilkinson, C. L. (2025) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-025-09651-3 · Cited by 3

Neurophysiological Profiles in a Family with Multiple SHANK3-Related Phelan–McDermid Syndrome Cases

Neklyudova, A. K., Lind, K. V., Portnova, G. V., Golovina, K. D., Mitina, M., Manakhov, A. D., & Sysoeva, O. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27031567 · Cited by 4

An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome

Maino, E., Scott, O., Rizvi, S. Z., Chan, W. S., Visuvanathan, S., Zablah, Y. B., Li, H., Sengar, A. S., Salter, M. W., Jia, Z., et al. (2024) · Disease Models & Mechanisms · doi:10.1242/dmm.050528 · Cited by 3

Untangling the Molecular Mechanisms Contributing to Autism Spectrum Disorder Using Stem Cells

Mattingly, Z. A., & Chetty, S. (2025) · Autism Research · doi:10.1002/aur.70005 · Cited by 3

Pharmacogenomics: A Promising Approach Towards Treatment of Autism

Wang, H. (2012) · Journal of Pharmacogenomics & Pharmacoproteomics · doi:10.4172/2153-0645.1000e110 · Cited by 3

Developmental Disabilities - Molecules Involved, Diagnosis, and Clinical Care

Salehi, A. (2013) · InTech eBooks · doi:10.5772/56808 · Cited by 3

PROTEASE-ACTIVATED RECEPTOR 1 INHIBITION DOES NOT AFFECT THE SOCIAL BEHAVIOR AFTER STATUS EPILEPTICUS IN RAT

Semenikhina, M., Bogovyk, R. I., Fedoriuk, M., Stasyshyn, O., Савотченко, А., & Isaeva, E. (2018) · Fìzìologìčnij žurnal · doi:10.15407/fz64.06.017 · Cited by 3

Sodium Channelopathies of the Central Nervous System

DeCaen, P. G., George, A. L., & Thompson, C. H. (2019) · Oxford University Press eBooks · doi:10.1093/oxfordhb/9780190669164.013.21 · Cited by 3

Whole-Brain Monosynaptic Afferents to Rostromedial Tegmental Nucleus Gamma-Aminobutyric Acid-Releasing Neurons in Mice

Zhao, Y.-N., Zhang, Y., Tao, S.-Y., Huang, Z., Qu, W., & Yang, S.-R. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.914300 · Cited by 5

Potentiation of the M1 muscarinic acetylcholine receptor normalizes neuronal activation patterns and improves apnea severity in Mecp2+/− mice

Smith, M., Dodis, G. E., Vanderplow, A. M., Gonzalez, S., Rhee, Y., Scrogin, K. E., & Gogliotti, R. G. (2025) · Neurobiology of Disease · doi:10.1016/j.nbd.2025.106859 · Cited by 3

Epilepsy in Models of Rett Syndrome

Eubanks, J. H. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804066-9.00075-4 · Cited by 3

Using iPSC-Based Models to Understand the Signaling and Cellular Phenotypes in Idiopathic Autism and 16p11.2 Derived Neurons

Turkalj, L., Mehta, M., Matteson, P. G., Prem, S., Williams, M., Connacher, R., DiCicco-Bloom, E. M., & Millonig, J. H. (2020) · Advances in neurobiology · doi:10.1007/978-3-030-45493-7_4 · Cited by 3

Obsessive-Compulsive Disorders or Not: Differential Diagnosis of Repetitive Behaviors Among Individuals with Intellectual and Developmental Disorders

Barnhill, J. (2011) · InTech eBooks · doi:10.5772/19109 · Cited by 3

Synaptic Dysfunction Attributes to Autism Spectrum Disorder

Zhan, Y., & Kong, X. (2011) · North American Journal of Medicine and Science · doi:10.7156/v4i3p112 · Cited by 3

NKCC1KnockdownDecreasesNeuronProductionthrough GABA A -RegulatedNeuralProgenitorProliferationand DelaysDendriteDevelopment

Bordey, A., & Ikeda‐Matsuo, Y. (2012) · Cited by 3

Rett syndrome and MECP2-related disorders

Neul, J. L., & Chang, Q. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-814409-1.00011-2 · Cited by 3

Tug-of-Peace: Visual Rivalry and Atypical Visual Motion Processing in MECP2 Duplication Syndrome of Autism

Bogatova, D., Smirnakis, S. M., & Palagina, G. (2023) · eNeuro · doi:10.1523/eneuro.0102-23.2023 · Cited by 3

Pathological redundancy of the motor act: modern concepts of the pathogenesis and approaches to the pharmacological treatment

Kudlatch, A. I., Shalkevich, L. V., Симоненко, А. В., Nalivko, I. I., & Litvinova, O. S. (2017) · S S Korsakov Journal of Neurology and Psychiatry · doi:10.17116/jnevro2017117111161-167 · Cited by 3

MSK1 absence hinders BDNF-dependent striatal neurodevelopment and leads to schizophrenia symptomsPreprint

Varela-Andrés, N., Cebrián-León, A., Caño, C. H.-D., del Campo, I. S. F., García-Losada, S., Martín-Ávila, N., Arévalo, J. C., Merchán, M. Á., Sánchez‐Martín, M., & Deogracias, R. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.01.23.576945 · Cited by 3

Mapping alterations in the local synchrony of the cerebral cortex in Prader Willi syndrome

Blanco‐Hinojo, L., Pujol, J., Martínez‐Vilavella, G., Giménez‐Palop, O., Casamitjana, L., Cobo, J., Pareja, R., Esteba‐Castillo, S., Deus, J., & Caixàs, A. (2025) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2025.01.012 · Cited by 2

Cpeb1 remodels cell type–specific translational program to promote fear extinction

Zhang, J., Yang, C., Liu, Z., Wu, S., Li, Z.-G., Zhang, L. Y., Fan, H.-W., Guo, Z., Man, H., Li, X., et al. (2025) · Science Advances · doi:10.1126/sciadv.adr8687 · Cited by 2

Interneuron migration defects during corticogenesis contribute to Dyrk1a haploinsufficiency syndrome pathogenesis

Hinckelmann, M.-V., Dubos, A., Artot, V., Rudolf, G., Nguyen, T. L., Tilly, P., Nalesso, V., Moreno, M. D. M. M., Birling, M., Godin, J. D., et al. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-03109-7 · Cited by 4

Cell Type-Specific Contributions of UBE3A to Angelman Syndrome Behavioral Phenotypes

Ringelberg, N. W., Mayfield, R. E., Lord, J. S., Diering, G. H., Burette, A. C., & Philpot, B. D. (2025) · eNeuro · doi:10.1523/eneuro.0453-24.2025 · Cited by 2

Genetic Mechanisms of Experience-Dependent Neuronal Plasticity

West, A. E. (2025) · Annual Review of Genetics · doi:10.1146/annurev-genet-020325-103824 · Cited by 4

Loss of the Mecp2 gene in parvalbumin interneurons leads to an inhibitory deficit in the amygdala and affects its functional connectivity

Liiwand, M., Haikonen, J., Kokinovic, B., Molchanova, S. M., Aitta‐aho, T., Lauri, S. E., & Ryazantseva, M. (2026) · Molecular Autism · doi:10.1186/s13229-025-00699-5 · Cited by 2

Repeated Stress Escalates Aggression and Activity in Fronto‐Limbic Regions in Cntnap2−/− Mice

Hertweck, C. H., Carter, C., McDaniel, S., Llorach, P., Tilton, H. E., Kodali, A., Christoffel, D. J., & Walsh, J. J. (2026) · Genes, Brain and Behavior · doi:10.1111/gbb.70048 · Cited by 2

Synaptic protein mutations in autism

Sauer, A. K., Walsh, J. A., Curran, D., Zohourian, N., Stanton, J. E., Zabetakis, I., Brown, J. A. L., & Grabrucker, A. M. (2026) · Neurobiology of Disease · doi:10.1016/j.nbd.2026.107365 · Cited by 4

Multi-omics characterization of developing forebrain organoids unravels the dynamic molecular events of Rett syndrome pathogenesis

Koetsier, J., Sangani, N. B., Gomes, A. R., Diogo, M. M., Fernandes, T. G., Bouwman, F. G., Mariman, E. C. M., Ghazvini, M., Schurgers, L. J., Gribnau, J. H., et al. (2026) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-026-09699-9 · Cited by 2

MeCP2 gene dosage-dependent neurodevelopmentally restricted defects arise by aberrant activation of cell fate-determining bivalent genes

Luoni, M., Kubacki, M., Giannelli, S. G., Morosi, F., Berardino, C. D., Iannielli, A., Sessa, A., Colasante, G., Soldateschi, E. D. P., Lanzuolo, C., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-71432-w · Cited by 2

Bridging the Gap between DNA Methylation, DNA Methylation Readers, and Neurodevelopmental Disorders

McGowan, H. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.1130-16.2016 · Cited by 2

Sarin attacks in Japan: acute and delayed health effects in survivors

(2020) · Elsevier eBooks · doi:10.1016/b978-0-12-819090-6.00004-0 · Cited by 2

Embryonic Deletion of TXNIP in GABAergic Neurons Enhanced Oxidative Stress in PV+ Interneurons in Primary Somatosensory Cortex of Aging Mice: Relevance to Schizophrenia

Xue, T., Wang, X., Hu, Y. C., Cheng, Y., Li, H., Shi, Y., Wang, L., Yin, D., & Cui, D. (2022) · Brain Sciences · doi:10.3390/brainsci12101395 · Cited by 2

Activity-Dependent Differential Regulation of Auts2 Isoforms In Vitro and In Vivo

Pang, W., Wang, M., Bi, Q., Li, H., Zhou, Q., Ye, X., Xiang, W., & Xiao, L. (2023) · Molecular Neurobiology · doi:10.1007/s12035-023-03241-x · Cited by 2

Neurophysiological markers that link genes and behavior in humans: examples from rare genetic syndromes associated with autism spectrum disorders

Sysoeva, O. (2023) · Genes and Cells · doi:10.23868/gc567774 · Cited by 2

Childhood anaesthesia and autism risk: population and murine study

Sun, M., Fu, N., Li, T., Miao, M., Chen, W., Wu, S., & Zhang, J. (2024) · Brain Communications · doi:10.1093/braincomms/fcae325 · Cited by 2

Astrocytic Regulation of Aberrant Perineuronal Net Formation in Mecp2 ‐Null Neocortex

Sinha, A., Kowalchuk, A. M., Khatibi, N., Matthews, R. T., & MacDonald, J. L. (2026) · Journal of Neurochemistry · doi:10.1111/jnc.70503 · Cited by 5

Multimodal GABAA Receptor Functions on Cell Development

Fukuda, A., Nakanishi, Y., Kumada, T., & Furukawa, T. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-397266-8.00152-6 · Cited by 2

DLX6 (distal-less homeobox 6)

Gitton, Y., & Levi, G. (2014) · Atlas of Genetics and Cytogenetics in Oncology and Haematology · doi:10.4267/2042/54164 · Cited by 2

What you Seize is What you Get: Do We Yet Understand Epilepsy in Rett Syndrome?

Benke, T. A. (2014) · Epiliepsy currents/Epilepsy currents · doi:10.5698/1535-7597-14.5.283 · Cited by 2

DLX5 (distal-less homeobox 5)

Gitton, Y., & Levi, G. (2014) · Atlas of Genetics and Cytogenetics in Oncology and Haematology · doi:10.4267/2042/54163 · Cited by 2

What the nose knows, what the eyes see, how we feel, how we learn, how we understand motor acts, why “YY” is essential for ion transport, how epigenetics meet neurobiology in Rett syndrome: seven topics at the 2010 Kavli Prize Symposium on Neuroscience

Bergersen, L. H., Sander, M. D. C., & Storm‐Mathisen, J. (2011) · Neuroscience · doi:10.1016/j.neuroscience.2011.05.036 · Cited by 2

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

Şahin, M., & Sur, M. (2016) · DSpace@MIT (Massachusetts Institute of Technology) · Cited by 4

Multi-parametric profiling network based on gene expression and phenotype data: a novel approach to developmental neurotoxicity testing

Sone, H., Nagano, R., Akanuma, H., Taniguchi, T., Imanishi, S., Fujibuchi, W., & Ohsako, S. (2012) · 日本毒性学会学術年会 The 6th International Congress of Asian Society of Toxicology · doi:10.14869/toxpt.39.2.0.ap-213.0 · Cited by 2

Genetic and epigenetic influences on the phenotype of Rett syndrome

Downs, J. A., LaSalle, J. M., & Leonard, H. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-813796-3.00009-2 · Cited by 2

[A review on the role of γ-aminobutyric acid signaling pathway in autism spectrum disorder].

Wang, B., Li, H., Yue, X.-J., Jia, F., & Du, L. (2018) · PubMed Central · doi:10.7499/j.issn.1008-8830.2018.11.019 · Cited by 2

An overview of developmental dysregulation of autonomic control in infants

Altamirano, A. E., & Wilson, C. G. (2021) · Birth Defects Research · doi:10.1002/bdr2.1855 · Cited by 2

Functional genomics of psychiatric disease risk using genome engineering

García, M. F., Powell, S. K., LaMarca, E. A., Fernando, M. B., Cohen, S., Fang, G., Akbarian, S., & Brennand, K. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-823577-5.00021-0 · Cited by 2

CDKL5 deficiency results in atypical subregion-specific expression of perineuronal nets during mouse visual critical period

Emery, B. A., Everett, M., Dunn, L. R., Lau, B. Y. B., & Krishnan, K. (2026) · Frontiers in Neuroscience · doi:10.3389/fnins.2026.1769195 · Cited by 2

Aspectos neurobiológicos del Síndrome de Rett

Liberona, A., & Albornoz-Miranda, M. (2023) · Revista chilena de neuro-psiquiatría · doi:10.4067/s0717-92272023000100107 · Cited by 3

Respiratory Disorders in Rett Syndrome

Spoto, G., Accetta, A. S., Grella, M. G., Modica, I. D., & Nicotera, A. G. (2024) · Current Respiratory Medicine Reviews · doi:10.2174/011573398x284907240426054522 · Cited by 2

Multimodal GABAA receptor functions in the development of the central nervous system

Kumada, T., & Fukuda, A. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-823672-7.00014-4 · Cited by 2

Redox imbalance and oxidative stress in Mecp2 deficient neurons

Can, K. (2016) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-5971 · Cited by 1

Hyperactive MEK1 signaling in cortical GABAergic neurons causes embryonic parvalbumin-neuron death and defects in behavioral inhibitionPreprint

Holter, M. C., Hewitt, L. T., Nishimura, K. J., Bjorklund, G. R., Shah, S., Fry, N., Rees, K. P., Gupta, T. A., Daniels, C. W., Li, G., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/748087 · Cited by 2

Hyperexcitability and loss of feedforward inhibition in the Fmr1 KO lateral amygdalaPreprint

Guthman, E. M., Svalina, M. N., Rio, C. A. C.-D., Kushner, J. K., Baca, S. M., Restrepo, D., & Huntsman, M. M. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.04.21.053652 · Cited by 2

Whole-body plethysmography revisitedPreprint

Hülsmann, S., Khan, A., Hagos, L., Hindermann, M., Nägel, T., & Dullin, C. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.02.24.432470 · Cited by 2

Control of contextual memory through interneuronal α5-GABA A receptorsPreprint

Zhu, M., Abdulzahir, A., Perkins, M. G., Chu, C. C., Krause, B. M., Casey, C., Lennertz, R. C., Ruhl, D. A., Hentschke, H., Nagarajan, R., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.03.03.482912 · Cited by 2

A computational probe into the behavioral and neural markers of atypical facial emotion processing in autism.Preprint

Kar, K. (2021) · Research Square · doi:10.21203/rs.3.rs-363364/v1 · Cited by 2

Interneuron migration defects during corticogenesis contribute to Dyrk1a haploinsufficiency syndrome pathogenesis via actomyosin dynamics deregulationsPreprint

Hinckelmann, M.-V., Dubos, A., Artot, V., Rudolf, G., Nguyen, T. L., Tilly, P., Nalesso, V., Moreno, M. D. M. M., Birling, M., Godin, J. D., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.11.09.566424 · Cited by 2

Neurological Mechanisms Underlying Repetitive and Restricted Behaviors in Autism Spectrum Disorders

Poleg, S., & Zachor, D. A. (2021) · Autism and child psychopathology series · doi:10.1007/978-3-030-66445-9_3 · Cited by 1

Modern application possibilities hopanthenic acid (Pantocalcin) in treatmentdiseases of the nervous system in children

Немкова, С. А. (2022) · S S Korsakov Journal of Neurology and Psychiatry · doi:10.17116/jnevro202212205169 · Cited by 1

Correlations between stereotypies in ASD and neurotransmitters: a systematic review

Ramos, F. I. O., Martins, K. G. T. F., Bachur, T. P. R., & Aragão, G. F. (2023) · Revista Neurociências · doi:10.34024/rnc.2023.v31.14121 · Cited by 1

Possible association between Toxoplasma gondii infection and autism spectrum disorder

Galeh, T. M., Nayeri, T., Dodangeh, S., Hosseininejad, Z., Tanzif, A., Khalilian, A., & Daryani, A. (2025) · Parasites Hosts and Diseases · doi:10.3347/phd.24066 · Cited by 1

Unsilenced inhibitory cortical ensemble gates remote memory retrieval

Wang, S., Sheng, T., Su, F., He, Y., Cao, R., Wang, Q., Fang, W., Zhang, C., & Lu, W. (2025) · Cell Reports · doi:10.1016/j.celrep.2025.116360 · Cited by 1

Glutamatergic Neurons in the Cerebellar Lateral Nucleus Contribute to Motor Deficits Induced by Chronic Sleep Disturbance

Zhu, J. H., Qi, W.-Q., Kong, L.-X., Lin, Y., Ding, F., Huang, Z., & Qu, W. (2025) · Brain Sciences · doi:10.3390/brainsci15111185 · Cited by 1

Autism-like behavior induced by conditional ablation of the Bassoon gene in GABAergic interneurons

Annamneedi, A., Montenegro‐Venegas, C., Çalışkan, G., Marosi, E. L., Blondiaux, A., Tiwari, N., Razzaq, M., Kreutzmann, J. C., Pellissier, L. P., Fejtová, A., et al. (2026) · Molecular Psychiatry · doi:10.1038/s41380-026-03792-0 · Cited by 2

PVN AVP neurons projecting to MeA modulate social recognition and anxiety-like behavior in female mice

Zhang, W., Huang, C., Liu, J., Lu, L., Bai, Y., Sun, Y., Zhang, L., Ren, L., Huang, K., Yan, S., et al. (2025) · Behavioural Brain Research · doi:10.1016/j.bbr.2025.115984 · Cited by 1

Cortical Somatostatin Neurons Regulate Seizure Susceptibility via MINAR1/Gαs–cAMP Signaling

Liu, W., Hu, Z., Hu, L., Wang, Y.-B., Zhang, Q., Song, N., Liu, X., Chen, J., Zhu, H., Zhou, B., et al. (2026) · Advanced Science · doi:10.1002/advs.202519388 · Cited by 1

Aperiodic and periodic neural activity during sleep in autism spectrum disorders

Mazzoni, N., Kurz, E., Cellini, N., Ciringione, L., Calderan, M., Gallitto, G., de Falco, S., Venuti, P., Zinke, K., Jan Born, A., et al. (2026) · BMC Medicine · doi:10.1186/s12916-026-04771-6 · Cited by 1

Dual anterior insula-prefrontal cortex circuits mediate chronic stress-induced social interaction deficits

Li, S., Yang, J., Cai, M., Zhao, Z., Zhao, X., Li, H., Ning, S., Yang, G., Shen, W., Wang, H., et al. (2026) · Neuron · doi:10.1016/j.neuron.2026.02.015 · Cited by 2

Loss-of-function variants in MARK2 cause neurodevelopmental disorder

Yang, Y., Shim, Y.-K., Miyake, N., Takada, S., Silva, S., Peters-Foitzick, A., Gupta, A. R., Neuhaus, E., Bradley, C. C., Taylor, C. M., et al. (2026) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2026.100600 · Cited by 1

New insights into Rett syndrome pathogenesis: defining the role of MEPC2 in DNA damage

Mansooralavi, N., & Lowry, W. E. (2026) · Frontiers in Neurology · doi:10.3389/fneur.2026.1711771 · Cited by 1

MSK1 mediates BDNF-dependent MeCP2-S421 phosphorylation in postnatal striatal development and psychiatric-relevant behaviours

Varela-Andrés, N., Caño, C. H.-D., Cebrián-León, A., Blanco, A., de Pariza, I. L. A. L., del Campo, I. S. F., García-Losada, S., Arévalo, J. C., Sánchez-Martín, M., Bajo‐Grañeras, R., et al. (2026) · Molecular Psychiatry · doi:10.1038/s41380-026-03630-3 · Cited by 1

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Arutiunian, V., Santhosh, M., Neuhaus, E., Borland, H., Bernier, R., Bookheimer, S. Y., Dapretto, M., Gupta, A. R., Jack, A., Jeste, S., et al. (2026) · Scientific Reports · doi:10.1038/s41598-026-59415-9 · Cited by 1

Excitation/inhibition balance subtypes in autism and their genetic, neural, and clinical profiles

Arutiunian, V., Sullivan, C. A. W., Santhosh, M., Neuhaus, E., Borland, H., Bernier, R., Bookheimer, S. Y., Dapretto, M., Jack, A., Jeste, S., et al. (2026) · Journal of Neural Transmission · doi:10.1007/s00702-026-03283-0 · Cited by 1

GABAergic dysfunction mediates autism-like stereotypies and Rett syndrome phenotypes

Chao, H.-T., Chen, H., Samaco, R. C., Xue, M., Yoo, J., Neul, J. L., Gong, S., Lu, H., Ekker, M., Rubenstein, J. L. R., et al. (2016)

Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome

Ure, K., Lü, H., Wang, W., Ito, A., Wu, Z., He, L.-J., Sztainberg, Y., Chen, W., Tang, J., & Zoghbi, H. Y. (2016) · eLife · doi:10.7554/elife.14198 · Cited by 133

Defective GABAergic neurotransmission in the nucleus tractus solitarius in Mecp2-null mice, a model of Rett syndrome

Chen, C.-Y., Lucente, J. D., Lin, Y.-C., Lien, C., Rogawski, M. A., Maezawa, I., & Jin, L. (2017) · Neurobiology of Disease · doi:10.1016/j.nbd.2017.09.006 · Cited by 30

GABA and Glutamate Pathways Are Spatially and Developmentally Affected in the Brain of Mecp2-Deficient Mice

Khoury, R. E., Panayotis, N., Matagne, V., Ghata, A. S., Villard, L., & Roux, J. (2014) · PLoS ONE · doi:10.1371/journal.pone.0092169 · Cited by 66

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

Medrihan, L., Tantalaki, E., Aramuni, G., Sargsyan, V., Dudanova, I., Missler, M., & Zhang, W. (2007) · Journal of Neurophysiology · doi:10.1152/jn.00826.2007 · Cited by 237