Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, et al. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q133 deletion syndrome. Am J Hum Genet. 2001;69(2):261–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Phelan K, Boccuto L, Powell CM, Boeckers TM, van Ravenswaaij-Arts C, Rogers RC, et al. Phelan-McDermid syndrome: a classification system after 30 years of experience. Orphanet J Rare Dis. 2022;17(1):27.

Article  PubMed  PubMed Central  Google Scholar 

Phelan K, McDermid HE. The 22q13.3 deletion syndrome (Phelan-McDermid syndrome). Mol Syndromol. 2012;2(3–5):186–201.

CAS  PubMed  Google Scholar 

Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, et al. 22q13 deletion syndrome. Am J Med Genet. 2001;101(2):91–9.

Article  CAS  PubMed  Google Scholar 

Sarasua SM, Dwivedi A, Boccuto L, Chen CF, Sharp JL, Rollins JD, et al. 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome. Genet Med. 2014;16(4):318–28.

Article  CAS  PubMed  Google Scholar 

Durand CM, Perroy J, Loll F, Perrais D, Fagni L, Bourgeron T, et al. SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism. Mol Psychiatry. 2012;17(1):71–84.

Article  CAS  PubMed  Google Scholar 

Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, et al. Meta-analysis of SHANK mutations in autism spectrum disorders: a gradient of severity in cognitive impairments. PLoS Genet. 2014;10(9): e1004580.

Article  PubMed  PubMed Central  Google Scholar 

Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet. 2007;39(1):25–7.

Article  CAS  PubMed  Google Scholar 

Rudy B, Fishell G, Lee S, Hjerling-Leffler J. Three groups of interneurons account for nearly 100% of neocortical GABAergic neurons. Dev Neurobiol. 2011;71(1):45–61.

Article  PubMed  PubMed Central  Google Scholar 

Marín O. Interneuron dysfunction in psychiatric disorders. Nat Rev Neurosci. 2012;13(2):107–20.

Article  PubMed  Google Scholar 

Mann EO, Paulsen O. Role of GABAergic inhibition in hippocampal network oscillations. Trends Neurosci. 2007;30(7):343–9.

Article  CAS  PubMed  Google Scholar 

Fritschy JM. Epilepsy, E/I balance and GABA(A) receptor plasticity. Front Mol Neurosci. 2008;1:5.

Article  PubMed  PubMed Central  Google Scholar 

Nakazawa K, Zsiros V, Jiang Z, Nakao K, Kolata S, Zhang S, et al. GABAergic interneuron origin of schizophrenia pathophysiology. Neuropharmacology. 2012;62(3):1574–83.

Article  CAS  PubMed  Google Scholar 

Wonders CP, Anderson SA. The origin and specification of cortical interneurons. Nat Rev Neurosci. 2006;7(9):687–96.

Article  CAS  PubMed  Google Scholar 

Cancedda L, Fiumelli H, Chen K, Poo MM. Excitatory GABA action is essential for morphological maturation of cortical neurons in vivo. J Neurosci. 2007;27(19):5224–35.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ferguson BR, Gao WJ. PV interneurons: critical regulators of E/I balance for prefrontal cortex-dependent behavior and psychiatric disorders. Front Neural Circuits. 2018;12:37.

Article  PubMed  PubMed Central  Google Scholar 

Heise C, Taha E, Murru L, Ponzoni L, Cattaneo A, Guarnieri FC, et al. eEF2K/eEF2 pathway controls the excitation/inhibition balance and susceptibility to epileptic seizures. Cereb Cortex. 2017;27(3):2226–48.

PubMed  Google Scholar 

Chattopadhyaya B, Cristo GD. GABAergic circuit dysfunctions in neurodevelopmental disorders. Front Psychiatry. 2012;3:51.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen Q, Deister CA, Gao X, Guo B, Lynn-Jones T, Chen N, et al. Dysfunction of cortical GABAergic neurons leads to sensory hyper-reactivity in a Shank3 mouse model of ASD. Nat Neurosci. 2020;23(4):520–32.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lawrence YA, Kemper TL, Bauman ML, Blatt GJ. Parvalbumin-, calbindin-, and calretinin-immunoreactive hippocampal interneuron density in autism. Acta Neurol Scand. 2010;121(2):99–108.

Article  CAS  PubMed  Google Scholar 

Butt SJ, Stacey JA, Teramoto Y, Vagnoni C. A role for GABAergic interneuron diversity in circuit development and plasticity of the neonatal cerebral cortex. Curr Opin Neurobiol. 2017;43:149–55.

Article  CAS  PubMed  Google Scholar 

Xue M, Atallah BV, Scanziani M. Equalizing excitation-inhibition ratios across visual cortical neurons. Nature. 2014;511(7511):596–600.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kann O. The interneuron energy hypothesis: implications for brain disease. Neurobiol Dis. 2016;90:75–85.

Article  CAS  PubMed  Google Scholar 

Korotkova T, Fuchs EC, Ponomarenko A, von Engelhardt J, Monyer H. NMDA receptor ablation on parvalbumin-positive interneurons impairs hippocampal synchrony, spatial representations, and working memory. Neuron. 2010;68(3):557–69.

Article  CAS  PubMed  Google Scholar 

Filice F, Vörckel KJ, Sungur A, Wöhr M, Schwaller B. Reduction in parvalbumin expression not loss of the parvalbumin-expressing GABA interneuron subpopulation in genetic parvalbumin and shank mouse models of autism. Mol Brain. 2016;9:10.

Article  PubMed  PubMed Central  Google Scholar 

Gogolla N, Takesian AE, Feng G, Fagiolini M, Hensch TK. Sensory integration in mouse insular cortex reflects GABA circuit maturation. Neuron. 2014;83(4):894–905.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Schmeisser MJ, Ey E, Wegener S, Bockmann J, Stempel AV, Kuebler A, et al. Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2. Nature. 2012;486(7402):256–60.

Article  CAS  PubMed  Google Scholar 

Pouille F, Marin-Burgin A, Adesnik H, Atallah BV, Scanziani M. Input normalization by global feedforward inhibition expands cortical dynamic range. Nat Neurosci. 2009;12(12):1577–85.

Article  CAS  PubMed  Google Scholar 

Garrido D, Beretta S, Grabrucker S, Bauer HF, Bayer D, Sala C, et al. Shank2/3 double knockout-based screening of cortical subregions links the retrosplenial area to the loss of social memory in autism spectrum disorders. Mol Psychiatry. 2022;8:1–13.

Google Scholar 

Vicidomini C, Ponzoni L, Lim D, Schmeisser MJ, Reim D, Morello N, et al. Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out mice. Mol Psychiatry. 2017;22(5):689–702.

Article  CAS  PubMed  Google Scholar 

de Vivo L, Landi S, Panniello M, Baroncelli L, Chierzi S, Mariotti L, Spolidoro M, Pizzorusso T, Maffei L, Ratto GM. Extracellular matrix inhibits structural and functional plasticity of dendritic spines in the adult visual cortex. Nat Commun. 2013;4:1484.

Article  PubMed  Google Scholar 

Petrucco L, Pracucci E, Brondi M, Ratto GM, Landi S. Epileptiform activity in the mouse visual cortex interferes with cortical processing in connected areas. Sci Rep. 2017;7:40054.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brainard DH. The psychophysics toolbox. Spatial Vision. 1997;10:433–6.

Article  CAS  PubMed  Google Scholar 

Lamers D, Landi S, Mezzena R, Baroncelli L, Pillai V, Cruciani F, et al. Perturbation of cortical excitability in a conditional model of PCDH19 disorder. Cells. 2022;11:12.

Article  Google Scholar 

Lutz AK, Pfaender S, Incearap B, Ioannidis V, Ottonelli I, Föhr KJ, et al. Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles. Sci Transl Med. 2020;12:547.

Article  Google Scholar 

Mossa A, Pagano J, Ponzoni L, Tozzi A, Vezzoli E, Sciaccaluga M, et al. Developmental impaired Akt signaling in the Shank1 and Shank3 double knock-out mice. Mol Psychiatry. 2021;26:1928–44.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bevins RA, Besheer J. Object recognition in rats and mice: a one-trial non-matching-to-sample learning task to study “recognition memory.” Nat Protoc. 2006;1(3):1306–11.

Article  PubMed