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Table 1 iPSC-based models of ASD discussed in this review

From: Exploring the mechanisms underlying excitation/inhibition imbalance in human iPSC-derived models of ASD

GeneModel typePhenotype observedReference
ATRX, AFF2, KCNQ2, SCN2A, and ASTN2Homozygous deletionReduced synaptic activity[53]
CACNA1CASD-related mutationsDisrupted interneurons migration[54]
CNTN5 and EHMT2+Heterozygous deletionHyperexcitability.[55]
CNTNAP2Heterozygous deletionIncreased neuronal network activity[56]
FMR1Heterozygous deletionImpaired retinoic acid (RA)-dependent homeostatic synaptic plasticity[57]
MECP2Heterozygous deletion or duplicationAltered synaptic density, altered calcium signaling; altered neuronal firing rate and synchronization; delayed GABA switch[58,59,60,61]
NLGN4Gene overexpression and ASD-related mutationsIncreased excitatory synapse density, altered synaptic strength[62, 63]
NRXN1αHomozygous and heterozygous deletion, ASD-related mutationsImpaired synaptic strength, altered synaptic calcium signaling[64,65,66]
SHANK2Heterozygous deletion and ASD-related mutationsHyperconnectivity, enhanced branching complexity, increased synapse density[67]
SHANK3Heterozygous deletion and ASD-related mutationsHypoconnectivity, reduced synaptogenesis, and dendritic arborization; impaired neuronal excitability and excitatory synaptic transmission; impaired HCN channels[68,69,70,71,72,73,74]
TSC1/2Homozygous and heterozygous deletionAltered neuronal excitability and activity, altered synchrony (cortical neurons); hypoexcitability (cerebellar Purkinje cells)[75,76,77,78]
Other ASD models Aberrant neuronal maturation, altered neuronal differentiation and synaptic formation[79, 80]