The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481 · see citing works

Synaptic, transcriptional and chromatin genes disrupted in autism

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

O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165 · see citing works

Variations on an inhibitory theme: phasic and tonic activation of GABAA receptors

Farrant, M., & Nusser, Z. (2005) · Nature Reviews Neuroscience · doi:10.1038/nrn1625 · Cited by 2,081 · see citing works

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

Darnell, J. C., Van Driesche, S. J., Zhang, C., Hung, K. Y. S., Mele, A., Fraser, C. E., Stone, E. F., Chen, C., Fak, J. J., Chi, S. W., et al. (2011) · Cell · doi:10.1016/j.cell.2011.06.013 · Cited by 2,072 · see citing works

Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology

Voineagu, I., Wang, X., Johnston, P., Lowe, J. K., Tian, Y., Horvath, S., Mill, J., Cantor, R. M., Blencowe, B. J., & Geschwind, D. H. (2011) · Nature · doi:10.1038/nature10110 · Cited by 1,874 · see citing works

The mGluR theory of fragile X mental retardation

Bear, M. F., Huber, K. M., & Warren, S. T. (2004) · Trends in Neurosciences · doi:10.1016/j.tins.2004.04.009 · Cited by 1,580 · see citing works

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 · see citing works

Fast-spiking, parvalbumin ⁺ GABAergic interneurons: From cellular design to microcircuit function

Hu, H., Gan, J., & Jonas, P. (2014) · Science · doi:10.1126/science.1255263 · Cited by 1,197 · see citing works

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

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Beyond classical benzodiazepines: novel therapeutic potential of GABAA receptor subtypes

Rudolph, U., & Knoflach, F. (2011) · Nature Reviews Drug Discovery · doi:10.1038/nrd3502 · Cited by 733 · see citing works

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

Han, S., Tai, C., Westenbroek, R. E., Yu, F. H., Cheah, C. S., Potter, G. B., Rubenstein, J. L., Scheuer, T., de la Iglesia, H. O., & Catterall, W. A. (2012) · Nature · doi:10.1038/nature11356 · Cited by 643 · see citing works

Extrasynaptic GABA _A Receptors: Form, Pharmacology, and Function

Belelli, D., Harrison, N. L., Maguire, J., Macdonald, R. L., Walker, M. C., & Cope, D. W. (2009) · The Journal of Neuroscience · doi:10.1523/jneurosci.3340-09.2009 · Cited by 464 · see citing works

De Novo Mutations in Moderate or Severe Intellectual Disability

Hamdan, F. F., Srour, M., Capo-Chichi, J.-M., Daoud, H., Nassif, C., Patry, L., Massicotte, C., Ambalavanan, A., Spiegelman, D., Diallo, O., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004772 · Cited by 419 · see citing works

Genetic and Epigenetic Networks in Intellectual Disabilities

van Bokhoven, H. (2011) · Annual Review of Genetics · doi:10.1146/annurev-genet-110410-132512 · Cited by 382 · see citing works

Activation of GABAA Receptors: Views from Outside the Synaptic Cleft

Glykys, J., & Mody, I. (2007) · Neuron · doi:10.1016/j.neuron.2007.11.002 · Cited by 358 · see citing works

Specific deletion of Na _V 1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome

Cheah, C. S., Yu, F. H., Westenbroek, R. E., Kalume, F. K., Oakley, J. C., Potter, G. B., Rubenstein, J. L., & Catterall, W. A. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1211591109 · Cited by 336 · see citing works

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

Henderson, C., Wijetunge, L., Kinoshita, M. N., Shumway, M., Hammond, R. S., Postma, F. R., Brynczka, C., Rush, R., Thomas, A., Paylor, R., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004218 · Cited by 249 · see citing works

Preferential inactivation of Scn1a in parvalbumin interneurons increases seizure susceptibility

Dutton, S. B., Makinson, C. D., Papale, L. A., Shankar, A., Balakrishnan, B., Nakazawa, K., & Escayg, A. (2013) · Neurobiology of Disease · doi:10.1016/j.nbd.2012.08.012 · Cited by 128 · see citing works

Fragile X syndrome

Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L., et al. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.65 · Cited by 838 · see citing works

Genetic studies in intellectual disability and related disorders

Vissers, L. E. L. M., Gilissen, C., & Veltman, J. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg3999 · Cited by 761 · see citing works

Excitation/Inhibition Imbalance in Animal Models of Autism Spectrum Disorders

Lee, E., Lee, J., & Kim, E. (2017) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.05.011 · Cited by 468 · see citing works

Developmental timing and critical windows for the treatment of psychiatric disorders

Marín, O. (2016) · Nature Medicine · doi:10.1038/nm.4225 · Cited by 374 · see citing works

Peripheral Mechanosensory Neuron Dysfunction Underlies Tactile and Behavioral Deficits in Mouse Models of ASDs

Orefice, L. L., Zimmerman, A. L., Chirila, A. M., Sleboda, S. J., Head, J. P., & Ginty, D. D. (2016) · Cell · doi:10.1016/j.cell.2016.05.033 · Cited by 383 · see citing works

Sodium butyrate attenuates social behavior deficits and modifies the transcription of inhibitory/excitatory genes in the frontal cortex of an autism model

Kratsman, N., Getselter, D., & Elliott, E. (2016) · Neuropharmacology · doi:10.1016/j.neuropharm.2015.11.003 · Cited by 239 · see citing works

Neurotransmitter systems in the etiology of major neurological disorders: Emerging insights and therapeutic implications

Nimgampalle, M., Chakravarthy, H., Sharma, S., Shree, S., Bhat, A. R., Pradeepkiran, J. A., & Devanathan, V. (2023) · Ageing Research Reviews · doi:10.1016/j.arr.2023.101994 · Cited by 207 · see citing works

Crystal structures of a GABAA-receptor chimera reveal new endogenous neurosteroid-binding sites.

Laverty, D., Thomas, P., Field, M., Andersen, O. J., Gold, M. G., Biggin, P. C., Gielen, M., & Smart, T. G. (2017) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.3477 · Cited by 179 · see citing works

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

Veenstra-VanderWeele, J., Cook, E. H., King, B. H., Zarevics, P., Cherubini, M., Walton-Bowen, K., Bear, M. F., Wang, P. P., & Carpenter, R. L. (2017) · Neuropsychopharmacology · doi:10.1038/npp.2016.237 · Cited by 168 · see citing works

Beneficial effects of butyrate on brain functions: A view of epigenetic

Alpino, G. D. C. Á., Pereira-Sol, G. A., Dias, M. D. M. E., Aguiar, A. S. D., & Peluzio, M. D. C. G. (2024) · Critical Reviews in Food Science and Nutrition · doi:10.1080/10408398.2022.2137776 · Cited by 110 · see citing works

Pharmacological reversal of synaptic and network pathology in human MECP2‐KO neurons and cortical organoids

Trujillo, C. A., Adams, J. W., Negraes, P. D., Carromeu, C., Tejwani, L., Acab, A., Tsuda, B., Thomas, C. A., Sodhi, N., Fichter, K. M., et al. (2021) · EMBO Molecular Medicine · doi:10.15252/emmm.202012523 · Cited by 101 · see citing works

Perturbed Hippocampal Synaptic Inhibition and γ-Oscillations in a Neuroligin-4 Knockout Mouse Model of Autism

Hammer, M., Krueger-Burg, D., Tuffy, L. P., Cooper, B. H., Taschenberger, H., Goswami, S. P., Ehrenreich, H., Jonas, P., Varoqueaux, F., Rhee, J.-S., et al. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.09.011 · Cited by 66 · see citing works

Enhanced excitatory connectivity and disturbed sound processing in the auditory brainstem of fragile X mice

Garcia-Pino, E., Gessele, N., & Koch, U. (2017) · The Journal of Neuroscience · doi:10.1523/jneurosci.2310-16.2017 · Cited by 58 · see citing works

Intergenerational Metabolic Syndrome and Neuronal Network Hyperexcitability in Autism

Rivell, A., & Mattson, M. P. (2019) · Trends in Neurosciences · doi:10.1016/j.tins.2019.08.006 · Cited by 50 · see citing works

New therapeutic options for autism spectrum disorder: experimental evidences

Peñagarikano, O. (2015) · Experimental Neurobiology · doi:10.5607/en.2015.24.4.301 · Cited by 24 · see citing works

p21-activated kinase 1 restricts tonic endocannabinoid signaling in the hippocampus

Xia, S., Zhou, Z., Leung, C., Zhu, Y., Pan, X., Qi, J., Morena, M., Hill, M. N., Xie, W., & Jia, Z. (2016) · eLife · doi:10.7554/elife.14653 · Cited by 21 · see citing works