Epilepsy and autism spectrum disorders: are there common developmental mechanisms?
Abstract
Autistic spectrum disorders (ASD) and epilepsies are heterogeneous disorders that have diverse etiologies and pathophysiologies. The high rate of co-occurrence of these disorders suggest potentially shared underlying mechanisms. A number of well-known genetic disorders share epilepsy and autism as prominent phenotypic features, including tuberous sclerosis, Rett syndrome, and fragile X. In addition, mutations of several genes involved in neurodevelopment, including ARX, DCX, neuroligins and neuropilin2 have been identified in children with epilepsy, ASD or often both. Finally, in animal models, early-life seizures can result in cellular and molecular changes that could contribute to learning and behavioral disabilities as seen in ASD. Increased understanding of the common genetic, molecular and cellular mechanisms of ASD and epilepsy may provide insight into their underlying pathophysiology and elucidate new therapeutic approaches of both conditions.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
About 30% of patients with ASD also have epilepsy, and about 30% of patients with epilepsy have been diagnosed with ASD.
“As they argued, and as recent studies have reminded us, 30% of patients with an ASD also have epilepsy, and 30% of patients with epilepsy have been diagnosed with an ASD (Bolton et al., 2011; Brooks-Kayal, 2010; Tuchman et al., 2009).”
From Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops (2016) · cites this paper as Brooks-Kayal, 2010
Cites
Function and regulation of CREB family transcription factors in the nervous system
Lonze, B. E., & Ginty, D. D. (2002) · Neuron · doi:10.1016/s0896-6273(02)00828-0 · Cited by 2,127 · see citing works
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Study, P. A. R. I. S., Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., et al. (2003) · Nature Genetics · doi:10.1038/ng1136 · Cited by 1,851 · see citing works
MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
Chahrour, M., Jung, S. Y., Shaw, C., Zhou, X., Wong, S. T. C., Qin, J., & Zoghbi, H. Y. (2008) · Science · doi:10.1126/science.1153252 · Cited by 1,823 · see citing works
Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I. C., Anckarsäter, H., et al. (2007) · Nature Genetics · doi:10.1038/ng1933 · Cited by 1,602 · 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
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 · see citing works
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 · see citing works
Requirement for Hippocampal CA3 NMDA Receptors in Associative Memory Recall
Nakazawa, K., Quirk, M. C., Chitwood, R. A., Watanabe, M., Yeckel, M. F., Sun, L. D., Kato, A., Carr, C. A., Johnston, D., Wilson, M. A., et al. (2002) · Science · doi:10.1126/science.1071795 · Cited by 1,090 · see citing works
Fragile X Syndrome: Loss of Local mRNA Regulation Alters Synaptic Development and Function
Bassell, G. J., & Warren, S. T. (2008) · Neuron · doi:10.1016/j.neuron.2008.10.004 · Cited by 1,051 · see citing works
Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits
Comery, T. A., Harris, J. B., Willems, P. J., Oostra, B. A., Irwin, S. A., Weiler, I. J., & Greenough, W. T. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.10.5401 · Cited by 1,046 · see citing works
A Neuroligin-3 Mutation Implicated in Autism Increases Inhibitory Synaptic Transmission in Mice
Tabuchi, K., Blundell, J., Etherton, M. R., Hammer, R. E., Liu, X., Powell, C. M., & Südhof, T. C. (2007) · Science · doi:10.1126/science.1146221 · Cited by 997 · see citing works
Glutamate receptor function in learning and memory
Riedel, G. (2003) · Behavioural Brain Research · doi:10.1016/s0166-4328(02)00272-3 · Cited by 964 · see citing works
Zalfa, F., Giorgi, M., Primerano, B., Moro, A., Di Penta, A., Reis, S., Oostra, B., & Bagni, C. (2003) · Cell · doi:10.1016/s0092-8674(03)00079-5 · Cited by 676 · see citing works
Dani, V. S., Chang, Q., Maffei, A., Turrigiano, G. G., Jaenisch, R., & Nelson, S. B. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0506071102 · Cited by 639 · see citing works
Dendritic Spine Structural Anomalies in Fragile-X Mental Retardation Syndrome
Irwin, S. A. (2000) · Cerebral Cortex · doi:10.1093/cercor/10.10.1038 · Cited by 626 · see citing works
Chubykin, A. A., Atasoy, D., Etherton, M. R., Brose, N., Kavalali, E. T., Gibson, J. R., & Südhof, T. C. (2007) · Neuron · doi:10.1016/j.neuron.2007.05.029 · Cited by 594 · see citing works
Evidence that fragile X mental retardation protein is a negative regulator of translation
Laggerbauer, B. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.4.329 · Cited by 571 · see citing works
Feng, Y., Gutekunst, C.-A., Eberhart, D. E., Yi, H., Warren, S. T., & Hersch, S. M. (1997) · The Journal of Neuroscience · doi:10.1523/jneurosci.17-05-01539.1997 · Cited by 532 · see citing works
Gibson, J. R., Bartley, A. F., Hays, S. A., & Huber, K. M. (2008) · Journal of Neurophysiology · doi:10.1152/jn.90752.2008 · Cited by 529 · see citing works
Rudolph, U., & Möhler, H. (2004) · The Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev.pharmtox.44.101802.121429 · Cited by 518 · see citing works
Specific GABA <sub>A</sub> Circuits for Visual Cortical Plasticity
Fagiolini, M., Fritschy, J.-M., Löw, K., Möhler, H., Rudolph, U., & Hensch, T. K. (2004) · Science · doi:10.1126/science.1091032 · Cited by 471 · see citing works
The fragile X mental retardation protein inhibits translation via interacting with mRNA
Li, Z. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.11.2276 · Cited by 448 · see citing works
Muddashetty, R. S., Kelić, S., Gross, C., Xu, M., & Bassell, G. J. (2007) · The Journal of Neuroscience · doi:10.1523/jneurosci.0937-07.2007 · Cited by 421 · see citing works
The Pathophysiology of Fragile X Syndrome
Penagarikano, O., Mulle, J. G., & Warren, S. T. (2007) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.8.080706.092249 · Cited by 420 · see citing works
Antar, L. N., Afroz, R., Dictenberg, J. B., Carroll, R. C., & Bassell, G. J. (2004) · The Journal of Neuroscience · doi:10.1523/jneurosci.0099-04.2004 · Cited by 360 · see citing works
A developmental switch in the signaling cascades for LTP induction
Yasuda, H., Barth, A. L., Stellwagen, D., & Malenka, R. C. (2003) · Nature Neuroscience · doi:10.1038/nn985 · Cited by 325 · see citing works
Lu, R., Wang, H., Liang, Z., Ku, L., O'Donnell, W. T., Li, W., Warren, S. T., & Feng, Y. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0404995101 · Cited by 322 · see citing works
Decreased expression of the GABAA receptor in fragile X syndrome
D'Hulst, C., De Geest, N., Reeve, S. P., Van Dam, D., De Deyn, P. P., Hassan, B. A., & Kooy, R. F. (2006) · Brain Research · doi:10.1016/j.brainres.2006.08.115 · Cited by 318 · see citing works
Temporal lobe epilepsy after experimental prolonged febrile seizures: prospective analysis
Dubé, C. M., Richichi, C., Bender, R. A., Chung, G., Litt, B., & Baram, T. Z. (2006) · Brain · doi:10.1093/brain/awl018 · Cited by 283 · see citing works
Brewster, A. L., Bender, R. A., Chen, Y., Dubé, C. M., Eghbal-Ahmadi, M., & Baram, T. Z. (2002) · Journal of Neuroscience · doi:10.1523/jneurosci.22-11-04591.2002 · Cited by 270 · see citing works
Sanchez, R. M., Koh, S., Río, C., Wang, C., Lamperti, E. D., Sharma, D., Corfas, G., & Jensen, F. E. (2001) · Journal of Neuroscience · doi:10.1523/jneurosci.21-20-08154.2001 · Cited by 237 · see citing works
Decreased GABAA receptor expression in the seizure-prone fragile X mouse
Idrissi, A. E., Ding, X., Scalia, J., Trenkner, E., Brown, W. T., & Dobkin, C. (2004) · Neuroscience Letters · doi:10.1016/j.neulet.2004.11.087 · Cited by 210 · see citing works
Marsh, E. D., Fulp, C. T., Gomez, E., Nasrallah, I. M., Minarcik, J. C., Sudi, J., Christian, S. L., Mancini, G. M. S., Labosky, P. A., Dobyns, W. B., et al. (2009) · Brain · doi:10.1093/brain/awp107 · Cited by 209 · see citing works
Self-citationJiang, M., Lee, C. L., Smith, K. L., & Swann, J. W. (1998) · Journal of Neuroscience · doi:10.1523/jneurosci.18-20-08356.1998 · Cited by 207 · see citing works
Impaired glial glutamate transport in a mouse tuberous sclerosis epilepsy model
Wong, M. L., Ess, K. C., Uhlmann, E. J., Jansen, L. A., Li, W., Crino, P. B., Mennerick, S. J., Yamada, K. A., & Gutmann, D. H. (2003) · Annals of Neurology · doi:10.1002/ana.10648 · Cited by 199 · see citing works
Chuang, S.-C., Zhao, W., Bauchwitz, R., Yan, Q., Bianchi, R., & Wong, R. K. S. (2005) · Journal of Neuroscience · doi:10.1523/jneurosci.1777-05.2005 · Cited by 190 · see citing works
Local Protein Synthesis and Spine Morphogenesis: Fragile X Syndrome and Beyond
Grossman, A. W., Aldridge, G. M., Weiler, I. J., & Greenough, W. T. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.1790-06.2006 · Cited by 178 · see citing works
Quantitative neuropathological changes in presymptomatic Huntington's disease
Gómez‐Tortosa, E., MacDonald, M. E., Friend, J. C., Taylor, S. A., Weiler, L., Cupples, L. A., Srinidhi, J., Gusella, J. F., Bird, E. D., Vonsattel, J., et al. (2001) · Annals of Neurology · doi:10.1002/1531-8249(200101)49:1 · Cited by 170 · see citing works
Gantois, I., Vandesompele, J., Speleman, F., Reyniers, E., D’Hooge, R., Severijnen, L.-A. W. F. M., Willemsen, R., Tassone, F., & Kooy, R. F. (2005) · Neurobiology of Disease · doi:10.1016/j.nbd.2005.07.017 · Cited by 166 · see citing works
Chen, Y., Bender, R. A., Brunson, K. L., Pomper, J. K., Grigoriadis, D. E., Wurst, W., & Baram, T. Z. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0403975101 · Cited by 166 · see citing works
D’Hulst, C., Heulens, I., Brouwer, J. R., Willemsen, R., Geest, N. D., Reeve, S. P., Deyn, P. P. D., Hassan, B. A., & Kooy, R. F. (2008) · Brain Research · doi:10.1016/j.brainres.2008.11.075 · Cited by 164 · see citing works
Convulsing toward the pathophysiology of autism
Tuchman, R., Moshé, S. L., & Rapin, I. (2009) · Brain and Development · doi:10.1016/j.braindev.2008.09.009 · Cited by 142 · see citing works
Febrile seizures impair memory and cAMP response‐element binding protein activation
Chang, Y., Huang, A., Kuo, Y., Wang, S., Chang, Y., & Huang, C. (2003) · Annals of Neurology · doi:10.1002/ana.10789 · Cited by 132 · see citing works
Restoration of spatial working memory by genetic rescue of GluR-A–deficient mice
Schmitt, W. B., Sprengel, R., Mack, V., Draft, R. W., SEEBURG, P. H., Deacon, R. M. J., Rawlins, J. N. P., & Bannerman, D. M. (2005) · Nature Neuroscience · doi:10.1038/nn1412 · Cited by 131 · see citing works
Brewster, A. L., Bernard, J. A., Gall, C. M., & Baram, T. Z. (2005) · Neurobiology of Disease · doi:10.1016/j.nbd.2004.12.015 · Cited by 130 · see citing works
Dani, V. S., & Nelson, S. B. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.1019-09.2009 · Cited by 121 · see citing works
Zhang, G., Raol, Y. S. H., Hsu, F., & Brooks‐Kayal, A. R. (2003) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.2003.02124.x · Cited by 109 · see citing works
Self-citationSutula, T. P., Cavazos, J. E., & Golarai, G. (1992) · Journal of Neuroscience · doi:10.1523/jneurosci.12-11-04173.1992 · Cited by 106 · see citing works
Benzodiazepines block long-term potentiation in slices of hippocampus and piriform cortex
del Cerro, S., Jung, M., & Lynch, G. (1992) · Neuroscience · doi:10.1016/0306-4522(92)90071-9 · Cited by 106 · see citing works
Gant, J. C., Thibault, O., Blalock, E. M., Yang, J., Bachstetter, A. D., Kotick, J. D., Schauwecker, P. E., Hauser, K. F., Smith, G. M., Mervis, R., et al. (2008) · Epilepsia · doi:10.1111/j.1528-1167.2008.01725.x · Cited by 106 · see citing works
Mongillo, G., Amit, D. J., & Brunel, N. (2003) · European Journal of Neuroscience · doi:10.1046/j.1460-9568.2003.02908.x · Cited by 100 · see citing works
Origins of Epilepsy in Fragile X Syndrome
Hagerman, P. J., & Stafstrom, C. E. (2009) · Epiliepsy currents/Epilepsy currents · doi:10.1111/j.1535-7511.2009.01309.x · Cited by 94 · see citing works
Brunson, K. L., Eghbal-Ahmadi, M., & Baram, T. Z. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00312-6 · Cited by 89 · see citing works
Brooks‐Kayal, A. R., Jin, H., Price, M., & Dichter, M. A. (1998) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.1998.70031017.x · Cited by 82 · see citing works
Self-citationSpatial learning deficits without hippocampal neuronal loss in a model of early-onset epilepsy
Lee, C. L., Hannay, H. J., Hrachovy, R. A., Rashid, S., Antalffy, B. A., & Swann, J. W. (2001) · Neuroscience · doi:10.1016/s0306-4522(01)00327-x · Cited by 80 · see citing works
Seabrook, G. R., Easter, A., Dawson, G. R., & Bowery, B. J. (1997) · Neuropharmacology · doi:10.1016/s0028-3908(97)00040-3 · Cited by 75 · see citing works
Evaporation and deposition of alkyl-capped silicon nanocrystals in ultrahigh vacuum
Chao, Y., Šiller, L., Krishnamurthy, S., Coxon, P. R., Bangert, U., Gass, M. H., Kjeldgaard, L., Patole, S. N., Lie, L. H., O'Farrell, N., et al. (2007) · Nature Nanotechnology · doi:10.1038/nnano.2007.224 · Cited by 74 · see citing works
Chuang, S.-C., Bianchi, R., Kim, D., Shin, H., & Wong, R. K. S. (2001) · Journal of Neuroscience · doi:10.1523/jneurosci.21-16-06387.2001 · Cited by 73 · see citing works
Group I mGluR Activation Turns on a Voltage-Gated Inward Current in Hippocampal Pyramidal Cells
Chuang, S.-C., Bianchi, R., & Wong, R. K. S. (2000) · Journal of Neurophysiology · doi:10.1152/jn.2000.83.5.2844 · Cited by 72 · see citing works
Mead, A. N., & Stephens, D. (2003) · Journal of Neuroscience · doi:10.1523/jneurosci.23-29-09500.2003 · Cited by 68 · see citing works
Cellular Plasticity for Group I mGluR-Mediated Epileptogenesis
Bianchi, R., Chuang, S.-C., Zhao, W., Young, S. R., & Wong, R. K. S. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.5447-08.2009 · Cited by 67 · see citing works
Raol, Y. H., Zhang, G., Lund, I. V., Porter, B. E., Maronski, M., & Brooks‐Kayal, A. R. (2006) · Epilepsia · doi:10.1111/j.1528-1167.2006.00640.x · Cited by 62 · see citing works
Self-citationChen, Y.-J., Chow, J. C., & Lee, I. (2001) · Epilepsy Research · doi:10.1016/s0920-1211(00)00204-7 · Cited by 49 · see citing works
Association of the neuropilin‐2 (NRP2) gene polymorphisms with autism in Chinese Han population
Wu, S., Yue, W., Jia, M., Ruan, Y., Lu, T., Gong, X., Mei, S., Liu, J., Yang, X., & Zhang, D. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30495 · Cited by 46 · see citing works
The effects of seizures on the connectivity and circuitry of the developing brain
Swann, J. W. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20018 · Cited by 39 · see citing works
Hippocampal neurogenesis is not enhanced by lifelong reduction of glucocorticoid levels
Brunson, K. L., Baram, T. Z., & Bender, R. A. (2005) · Hippocampus · doi:10.1002/hipo.20074 · Cited by 34 · see citing works
Cann, S. A. H., Netten, J. P. V., & Netten, C. V. (2000) · Pure Amsterdam UMC · doi:10.1002/1531-8249(200003)47:3
Flagged first, then by citations
1 of the 68 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Disentangling the heterogeneity of autism spectrum disorder through genetic findings
Jeste, S. S., & Geschwind, D. H. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2013.278 · Cited by 644 · see citing works
Gao, R., & Penzes, P. (2015) · Current Molecular Medicine · doi:10.2174/1566524015666150303003028 · Cited by 516 · see citing works
Alterations of GABAergic Signaling in Autism Spectrum Disorders
Pizzarelli, R., & Cherubini, E. (2011) · Neural Plasticity · doi:10.1155/2011/297153 · Cited by 323 · see citing works
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
Veeramah, K. R., Johnstone, L. M., Karafet, T. M., Wolf, D., Sprissler, R. S., Salogiannis, J., Barth‐Maron, A., Greenberg, M. E., Stuhlmann, T., Weinert, S., et al. (2013) · Epilepsia · doi:10.1111/epi.12201 · Cited by 294 · see citing works
Early diagnosis of autism and impact on prognosis: a narrative review
Fernell, E., Eriksson, �., & Gillberg, C. (2013) · Clinical Epidemiology · doi:10.2147/clep.s41714 · Cited by 223 · see citing works
Deidda, G., Bozarth, I. F., & Cancedda, L. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00119 · Cited by 192 · see citing works
Genetics and Function of Neocortical GABAergic Interneurons in Neurodevelopmental Disorders
Rossignol, E. (2011) · Neural Plasticity · doi:10.1155/2011/649325 · Cited by 183 · see citing works
Talos, D. M., Sun, H., Zhou, X., Fitzgerald, E. C., Jackson, M. C., Klein, P., Lan, V. J., Joseph, A., & Jensen, F. E. (2012) · PLoS ONE · doi:10.1371/journal.pone.0035885 · Cited by 182 · see citing works
Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops
Mullins, C., Fishell, G., & Tsien, R. W. (2016) · Neuron · doi:10.1016/j.neuron.2016.02.017 · Cited by 167 · see citing works
Autism spectrum disorder and epilepsy: Disorders with a shared biology
Lee, B. H., Smith, T., & Paciorkowski, A. R. (2015) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2015.03.017 · Cited by 167 · see citing works
Lionel, A. C., Vaags, A. K., Sato, D., Gazzellone, M. J., Mitchell, E. B., Chen, H. Y., Costain, G., Walker, S., Egger, G., Thiruvahindrapuram, B., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt056 · Cited by 162 · see citing works
Strasser, L., Downes, M., Kung, J., Cross, J. H., & De Haan, M. (2018) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.13598 · Cited by 148 · see citing works
Autism Spectrum Disorder and Epilepsy
Jeste, S., & Tuchman, R. F. (2015) · Journal of Child Neurology · doi:10.1177/0883073815601501 · Cited by 147 · see citing works
Epilepsy and autism: Is there a special relationship?
Berg, A. T., & Plioplys, S. (2012) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2012.01.015 · Cited by 144 · see citing works
Temporal Lobe Epilepsy and Psychiatric Comorbidity
Vinti, V., Dell’Isola, G. B., Tascini, G., Mencaroni, E., Cara, G. D., Striano, P., & Verrotti, A. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.775781 · Cited by 143 · see citing works
Schendel, D., Overgaard, M. T., Christensen, J., Hjort, L., Jørgensen, M., Vestergaard, M., & Parner, E. T. (2016) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/jamapediatrics.2015.3935 · Cited by 135 · see citing works
Epilepsy and Autism: Neurodevelopmental Perspective
Tuchman, R. F., & Cuccaro, M. L. (2011) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-011-0195-x · Cited by 131 · see citing works
Merner, N. D., Chandler, M. R., Bourassa, C. V., Liang, B., Khanna, A. R., Dion, P. A., Rouleau, G. A., & Kahle, K. T. (2015) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2015.00386 · Cited by 128 · see citing works
Autism, epilepsy, and synaptopathies: a not rare association
Keller, R., Basta, R., Salerno, L., & Elia, M. (2017) · Neurological Sciences · doi:10.1007/s10072-017-2974-x · Cited by 124 · see citing works
Spooren, W., Lindemann, L., Ghosh, A., & Santarelli, L. (2012) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2012.09.004 · Cited by 119 · see citing works
In Sickness and in Health: Perineuronal Nets and Synaptic Plasticity in Psychiatric Disorders
Pantazopoulos, H., & Berretta, S. (2015) · Neural Plasticity · doi:10.1155/2016/9847696 · Cited by 118 · see citing works
The neurology of autism spectrum disorders
Jeste, S. (2011) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3283446450 · Cited by 128 · see citing works
Li, B.-M., Liu, X., Yi, Y., Deng, Y., Su, T., Zou, X., & Liao, W. (2011) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2011.04.060 · Cited by 116 · see citing works
Toma, C., Torrico, B., Hervás, A., Valdés-Mas, R., Tristán-Noguero, A., Padillo, V, Maristany, M., Salgado, M., Arenas, C., Puente, X. S., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.106 · Cited by 114 · see citing works
Chonchaiya, W., Au, J., Schneider, A., Hessl, D., Harris, S. W., Laird, M., Mu, Y., Tassone, F., Nguyen, D. V., & Hagerman, R. J. (2012) · Human Genetics · doi:10.1007/s00439-011-1106-6 · Cited by 109 · see citing works
Deregulated mTOR-mediated translation in intellectual disability.
Troca-Marín, J. A., Alves-Sampaio, A., & Montesinos, M. (2012) · Progress in neurobiology · doi:10.1016/j.pneurobio.2012.01.005 · Cited by 97 · see citing works
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes
Shi, Y., Zhang, Q., Cai, K., Poliquin, S., Shen, W., Winters, N. D., Yi, Y., Wang, J., Hu, N., Macdonald, R. L., et al. (2019) · Brain · doi:10.1093/brain/awz250 · Cited by 92 · see citing works
Neural Cell Adhesion Molecule NrCAM Regulates Semaphorin 3F-Induced Dendritic Spine Remodeling
Demyanenko, G. P., Mohan, V., Zhang, X., Brennaman, L. H., Dharbal, K. E. S., Tran, T. S., Manis, P. B., & Maness, P. F. (2014) · Journal of Neuroscience · doi:10.1523/jneurosci.1774-14.2014 · Cited by 92 · see citing works
Emerging roles of Na+/H+ exchangers in epilepsy and developmental brain disorders
Zhao, H., Carney, K. E., Falgoust, L., Pan, J. W., Sun, D., & Zhang, Z. (2016) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2016.02.002 · Cited by 87 · see citing works
FMR1 premutation and full mutation molecular mechanisms related to autism
Hagerman, R., Au, J., & Hagerman, P. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9084-5 · Cited by 85 · see citing works
Hester, M. S., & Danzer, S. C. (2014) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2013.12.022 · Cited by 78 · see citing works
Theta and Alpha Oscillation Impairments in Autistic Spectrum Disorder Reflect Working Memory Deficit
Larraín-Valenzuela, J., Zamorano, F. J., Soto‐Icaza, P., Carrasco, X., Herrera, C., Daiber, F., Aboitiz, F., & Billeke, P. B. (2017) · Scientific Reports · doi:10.1038/s41598-017-14744-8 · Cited by 78 · see citing works
Modeling the functional genomics of autism using human neurons
Konopka, G., Wexler, E., Rosen, E., Mukamel, Z., Osborn, G. E., Chen, L., Lu, D., Gao, F., Gao, K., Lowe, J. K., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.60 · Cited by 76 · see citing works
Hernan, A. E., Alexander, A., Jenks, K. R., Barry, J., Lenck-Santini, P.-P., Isaeva, E., Holmes, G. L., & Scott, R. C. (2014) · Neurobiology of Disease · doi:10.1016/j.nbd.2013.11.012 · Cited by 73 · see citing works
Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome
DiStefano, C., Gulsrud, A. C., Huberty, S., Kasari, C. L., Cook, E. H., Reiter, L. T., Thibert, R. L., & Jeste, S. (2016) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-016-9152-y · Cited by 73 · see citing works
Electroencephalography in Assessment of Autism Spectrum Disorders: A Review
Milovanović, M., & Grujičić, R. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.686021 · Cited by 78 · see citing works
Mortality in Individuals With Autism, With and Without Epilepsy
Pickett, J., Xiu, E., Tuchman, R. F., Dawson, G., & Lajonchere, C. (2011) · Journal of Child Neurology · doi:10.1177/0883073811402203 · Cited by 63 · see citing works
Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study
Gupta, A., de Bruyn, G., Tousseyn, S., Krishnan, B., Lagae, L., Agarwal, N., Minnesota Epilepsy Group, Frost, M., Sparagana, S., LaJoie, J., et al. (2020) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2019.12.016 · Cited by 64 · see citing works
Neurobiological Basis of Autism
Silver, W. G., & Rapin, I. (2012) · Pediatric Clinics of North America · doi:10.1016/j.pcl.2011.10.010 · Cited by 64 · see citing works
Wilson, R. B., Vangala, S., Elashoff, D., Safari, T., & Smith, B. A. (2021) · Sensors · doi:10.3390/s21020616 · Cited by 59 · see citing works
What is the Relationship Between Autism Spectrum Disorders and Epilepsy?
Tuchman, R. F. (2017) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2017.10.004 · Cited by 55 · see citing works
Amiet, C., Gourfinkel‐An, I., Laurent‐Levinson, C., Bodeau, N., Génin, B., Leguern, É., Tordjman, S., & Cohen, D. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-47 · Cited by 53 · see citing works
(2015) · Europe PMC (PubMed Central) · Cited by 51 · see citing works
Kleen, J. K., Sesqué, A., Wu, E. X., Miller, F. A., Hernan, A. E., Holmes, G. L., & Scott, R. C. (2011) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2011.07.022 · Cited by 50 · see citing works
Altered short-term plasticity in the prefrontal cortex after early life seizures
Hernan, A. E., Holmes, G. L., Isaev, D., Scott, R. C., & Isaeva, E. (2013) · Neurobiology of Disease · doi:10.1016/j.nbd.2012.10.007 · Cited by 49 · see citing works
The Cannabidiol Use in the Treatment of Epilepsy
Matos, R. L. A., Spinola, L. A., Barboza, L. L., Garcia, D. R., França, T. C. C., & Affonso, R. S. (2017) · Revista Virtual de Química · doi:10.21577/1984-6835.20170049 · Cited by 49 · see citing works
Robinson, S. J. (2012) · Neuropsychology Review · doi:10.1007/s11065-012-9212-3 · Cited by 47 · see citing works
Eaton, C. B., Thomas, R. H., Hamandi, K., Payne, G. C., Kerr, M., Linden, D. E. J., Owen, M. J., Cunningham, A. C., Bartsch, U., Struik, S. S., et al. (2019) · Epilepsia · doi:10.1111/epi.14722 · Cited by 47 · see citing works
Animal Models of Speech and Vocal Communication Deficits Associated With Psychiatric Disorders
Konopka, G., & Roberts, T. F. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.07.001 · Cited by 47 · see citing works
Bernard, P. B., & Benke, T. A. (2014) · Experimental Neurology · doi:10.1016/j.expneurol.2014.09.018 · Cited by 45 · see citing works
Mouridsen, S. E., Rich, B., & Isager, T. (2010) · Brain and Development · doi:10.1016/j.braindev.2010.07.002 · Cited by 44 · see citing works
The role of GABAergic neural circuits in the pathogenesis of autism spectrum disorder
Di, J., Li, J., O’Hara, B. F., Alberts, I. L., Xiong, L., Li, J., & Li, X. (2020) · International Journal of Developmental Neuroscience · doi:10.1002/jdn.10005 · Cited by 42 · see citing works
Fukuchi, M., Kirikoshi, Y., Mori, A., Eda, R., Ihara, D., Takasaki, I., Tabuchi, A., & Tsuda, M. (2014) · Journal of Neurochemistry · doi:10.1111/jnc.12801 · Cited by 41 · see citing works
Bioengineering tissue morphogenesis and function in human neural organoids
Fedorchak, N. J., Iyer, N. R., & Ashton, R. S. (2020) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2020.05.025 · Cited by 41 · see citing works
The role of GABAergic system in neurodevelopmental disorders: a focus on autism and epilepsy.
Sgadó, P., Dunleavy, M., Genovesi, S., Provenzano, G., & Bozzi, Y. (2011) · PubMed Central · Cited by 40 · see citing works
Interneuron Dysfunction in Syndromic Autism: Recent Advances
Takano, T. (2015) · Developmental Neuroscience · doi:10.1159/000434638 · Cited by 38 · see citing works
Autism and Epilepsy: Exploring the Relationship Using Experimental Models
Stafstrom, C. E., & Benke, T. A. (2015) · Epiliepsy currents/Epilepsy currents · doi:10.5698/1535-7511-15.4.206 · Cited by 36 · see citing works
Soy Infant Formula and Seizures in Children with Autism: A Retrospective Study
Westmark, C. J. (2014) · PLoS ONE · doi:10.1371/journal.pone.0080488 · Cited by 34 · see citing works
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects
Hamada, N., Ogaya, S., Nakashima, M., Nishijo, T., Sugawara, Y., Iwamoto, I., Ito, H., Maki, Y., Shirai, K., Baba, S., et al. (2018) · Brain · doi:10.1093/brain/awy246 · Cited by 33 · see citing works
Features of autism spectrum disorder (ASD) in childhood epilepsy: a population-based study.
Reilly, C., Atkinson, P., Das, K. B., Chin, R. F. M., Aylett, S. E., Burch, V., Gillberg, C., Scott, R. C., & Neville, B. G. R. (2015) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2014.11.014 · Cited by 31 · see citing works
Mohan, V., Sullivan, C. S., Guo, J., Wade, S. D., Majumder, S., Agarwal, A., Anton, E. S., Temple, B., & Maness, P. F. (2018) · Cerebral Cortex · doi:10.1093/cercor/bhy004 · Cited by 31 · see citing works
Shared Etiology in Autism Spectrum Disorder and Epilepsy with Functional Disability
Zahra, A., Wang, Y., Wang, Q., & Wu, J. (2022) · Behavioural Neurology · doi:10.1155/2022/5893519 · Cited by 30 · see citing works
Altered hippocampal-dependent memory and motor function in neuropilin 2–deficient mice
Shiflett, M. W., Gavin, M., & Tran, T. S. (2015) · Translational Psychiatry · doi:10.1038/tp.2015.17 · Cited by 29 · see citing works
Association between GABA(A) receptor subunit polymorphisms and autism spectrum disorder (ASD)
Sesarini, C. V., Costa, L. D., Grañana, N. E., Coto, M. A. G., Pallia, R. C., & Argibay, P. F. (2015) · Psychiatry Research · doi:10.1016/j.psychres.2015.07.077 · Cited by 28 · see citing works
Shangguan, Y., Xu, X., Ganbat, B., Li, Y., Wang, W., Yang, Y., Lu, X., Du, C., Tian, X., & Wang, X. (2017) · Cerebral Cortex · doi:10.1093/cercor/bhx215 · Cited by 28 · see citing works
Malcher‐Lopes, R. (2014) · Revista da Biologia · doi:10.7594/revbio.13.01.07 · Cited by 29 · see citing works
Neuroligin-1 Knockdown Suppresses Seizure Activity by Regulating Neuronal Hyperexcitability
Fang, M., Wei, J., Tang, B., Liu, J., Chen, L., Tang, Z., Luo, J., Chen, G., & Wang, X. (2014) · Molecular Neurobiology · doi:10.1007/s12035-014-8999-8 · Cited by 27 · see citing works
Swatzyna, R. J., Boutros, N. N., Genovese, A., MacInerney, E. K., Roark, A. J., & Kozlowski, G. P. (2018) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-018-1225-x · Cited by 27 · see citing works
Mikulecká, A., Druga, R., Stuchlı́k, A., Mareš, P., & Kubová, H. (2019) · Experimental Neurology · doi:10.1016/j.expneurol.2019.113005 · Cited by 27 · see citing works
Neurotransmitter Systems in Autism Spectrum Disorder
Çetin, F. H., Tunca, H., Güney, E., & İşeri, E. (2015) · InTech eBooks · doi:10.5772/59122 · Cited by 24 · see citing works
Somatic Overgrowth Predisposes to Seizures in Autism Spectrum Disorders
Valvo, G., Baldini, S., Brachini, F., Apicella, F., Cosenza, A., Ferrari, A. R., Guerrini, R., Muratori, F., Romano, M. F., Santorelli, F. M., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0075015 · Cited by 22 · see citing works
Węgiel, J., Flory, M. J., Schanen, N. C., Cook, E. H., Nowicki, K., Kuchna, I., Imaki, H., Ma, S. Y., Wegiel, J., London, E., et al. (2015) · Acta Neuropathologica Communications · doi:10.1186/s40478-015-0241-z · Cited by 21 · see citing works
Wilson, R. B., Vangala, S., Reetzke, R., Piergies, A. M. H., Ozonoff, S. J., & Miller, M. (2024) · Autism Research · doi:10.1002/aur.3150 · Cited by 21 · see citing works
Iwata, K., Matsuzaki, H., Tachibana, T., Ohno, K., Yoshimura, S., Takamura, H., Yamada, K., Matsuzaki, S., Nakamura, K., Tsuchiya, K. J., et al. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-33 · Cited by 20 · see citing works
Reduced hippocampal inhibition and enhanced autism-epilepsy comorbidity in mice lacking neuropilin 2
Eisenberg, C., Subramanian, D., Afrasiabi, M., Ziobro, P., DeLucia, J., Hirschberg, P. R., Shiflett, M. W., Santhakumar, V., & Tran, T. S. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01655-6 · Cited by 20 · see citing works
Pathophysiology of Epilepsy in Autism Spectrum Disorders
Stafstrom, C. E., Hagerman, P. J., & Pessah, I. N. (2012) · Oxford University Press eBooks · doi:10.1093/med/9780199746545.003.0071 · Cited by 19 · see citing works
Interviewing individuals with an autism spectrum disorder in forensic settings
Murphy, D. (2018) · International Journal of Forensic Mental Health · doi:10.1080/14999013.2018.1518939 · Cited by 17 · see citing works
Gender and psychiatric disorders in children with epilepsy. A meta-analysis
Lax-Pericall, M. T., Bird, V. J., & Taylor, E. A. (2019) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2019.02.014 · Cited by 17 · see citing works
Zhang, Y., Xie, X., Hu, J., Afreen, K. S., Zhang, C., Zhuge, Q., & Yang, J. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.546484 · Cited by 16 · see citing works
Regulation of seizure-induced MeCP2 Ser421 phosphorylation in the developing brain
Rosenberg, E. C., Bell, J. J. L., Handy, M., Soldan, S. S., Rakhade, S. N., Hilario‐Gomez, C., Folweiler, K., Jacobs, L., & Jensen, F. E. (2018) · Neurobiology of Disease · doi:10.1016/j.nbd.2018.05.001 · Cited by 17 · see citing works
Autism with Epilepsy: A Neuropsychopharmacology Update
Canitano, R., Palumbi, R., & Scandurra, V. (2022) · Genes · doi:10.3390/genes13101821 · Cited by 16 · see citing works
Sesarini, C. V., Costa, L. D., Naymark, M., Grañana, N. E., Cajal, A. R., Coto, M. A. G., Pallia, R. C., & Argibay, P. F. (2013) · Autism Research · doi:10.1002/aur.1353 · Cited by 16 · see citing works
Routine developmental and autism screening in an epilepsy care setting
Fisher, B., Dezort, C., Nordli, D. R., & Berg, A. T. (2012) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2012.06.006 · Cited by 16 · see citing works
Gaetz, W. C., Jurkiewicz, M. T., Kessler, S. K., Blaskey, L. G., Schwartz, E. S., & Roberts, T. P. L. (2017) · NeuroImage Clinical · doi:10.1016/j.nicl.2017.06.026 · Cited by 16 · see citing works
Arrested Glutamatergic Synapse Development in Human Partial Epilepsy
Anderson, M. P. (2010) · Epiliepsy currents/Epilepsy currents · doi:10.1111/j.1535-7511.2010.01386.x · Cited by 16 · see citing works
Matsuo, M., Maeda, T., Ishii, K., Tajima, D., Koga, M., & Hamasaki, Y. (2011) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2011.01.009 · Cited by 15 · see citing works
Zhang, Y., Gao, B., Xiong, Y., Zheng, F., Xu, X., Yang, Y., Hu, Y., & Wang, X. (2016) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-016-0423-7 · Cited by 15 · see citing works
Audiogenic Seizures and Social Deficits: No Aggravation Found in Krushinsky–Molodkina Rats
Rebik, A., Broshevitskaya, N. D., Kuzhuget, S., Aleksandrov, P., Abbasova, K., Zaichenko, M. I., & Midzyanovskaya, I. S. (2023) · Biomedicines · doi:10.3390/biomedicines11092566 · Cited by 14 · see citing works
Meguid, N. A., Nashaat, N. H., Hashem, H. S., & Khalil, M. M. (2017) · Asian Journal of Psychiatry · doi:10.1016/j.ajp.2017.11.037 · Cited by 14 · see citing works
Fetal brain inflammation may prime hyperexcitability and behavioral dysfunction later in life
Vezzani, A. (2013) · Annals of Neurology · doi:10.1002/ana.23930 · Cited by 14 · see citing works
Subramanian, D., Eisenberg, C., Huang, A., Baek, J., Naveed, H., Komatireddy, S., Shiflett, M. W., Tran, T. S., & Santhakumar, V. (2024) · Molecular Psychiatry · doi:10.1038/s41380-024-02839-4 · Cited by 13 · see citing works
Awareness and risk factors of autism spectrum disorder in an Egyptian population
Meguid, N. A., Nashaat, N. H., Elsaeid, A., Peana, M., Elnahry, A., & Bjørklund, G. (2021) · Research in Autism · doi:10.1016/j.rasd.2021.101781 · Cited by 13 · see citing works
The autistic brain in the context of normal neurodevelopment
Ziats, M. N., Edmonson, C. A., & Rennert, O. M. (2015) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2015.00115 · Cited by 13 · see citing works
Evaluation of Branched-Chain Amino Acids in Children with Autism Spectrum Disorder and Epilepsy
Meguid, N. A., Hashem, H. S., Ghanem, M. H., Helal, S. A., Semenova, Y. M., Hashem, S., Hashish, A. F., Chirumbolo, S., Elwan, A. M., & Bjørklund, G. (2023) · Molecular Neurobiology · doi:10.1007/s12035-022-03202-w · Cited by 12 · see citing works
De Novo Germline Mutations in SEMA5A Associated With Infantile Spasms
Wang, Q., Liu, Z., Lin, Z., Zhang, R., Lu, Y., Su, W., Li, F., Xu, X., Tu, M., Lou, Y., et al. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00605 · Cited by 12 · see citing works
Giniatullin, R. A., & Cherubini, E. (2025) · Brain Behavior and Immunity · doi:10.1016/j.bbi.2025.07.003 · Cited by 11 · see citing works
Sanderson, J. L., Freund, R. K., Castano, A. M., Benke, T. A., & Dell’Acqua, M. L. (2022) · Neuropharmacology · doi:10.1016/j.neuropharm.2022.109271 · Cited by 10 · see citing works
Çelik, H., Açıkel, S. B., Özdemi̇r, M., Aksoy, E., Öztoprak, Ü., Ceylan, N., & Yüksel, D. (2021) · Epilepsy Research · doi:10.1016/j.eplepsyres.2021.106599 · Cited by 11 · see citing works
Smith, Z., Kubiak, R. A., Arnold, M. R., Loupy, K., Taylor, J. A., Crist, T., Bernier, A. E., D'Angelo, H., Heinze, J. D., Lowry, C., et al. (2020) · Brain, behavior, and immunity · doi:10.1016/j.bbi.2020.05.034 · Cited by 9 · see citing works
Subramanian, D., Pralong, É., Daniel, R. T., Chacko, A. G., Stoop, R., & Babu, K. S. (2018) · Translational Psychiatry · doi:10.1038/s41398-017-0065-7 · Cited by 9 · see citing works
- Authors
- Brooks-Kayal, A.
- Venue
- Brain and Development
- Publisher
- Elsevier BV
- Published
- 2010-10
- Volume
- 32
- Issue
- 9
- Pages
- 731-738
- ISSN
- 0387-7604 (ISSN-L)
- OpenAlex
- W1973769804
- Cited by
- 162
- References
- 68
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 6 · 2023: 4 · 2022: 4 · 2021: 12 · 2020: 8 · 2019: 8 · 2018: 13 · 2017: 13 · 2016: 13 · 2015: 17 · 2014: 14 · 2013: 11 · 2012: 14
- FWCI
- 9.16
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Brain and Development (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- epilepsy, autism spectrum disorder, developmental mechanisms, genetic disorders, tuberous sclerosis complex, Rett syndrome, fragile X syndrome, ARX, doublecortin, neuroligins, neuropilin-2, early-life seizures, animal models, shared pathophysiology
- MeSH terms
- Brain, Child, Developmental Disabilities, Child Development Disorders, Pervasive, Epilepsy, Humans, Models, Biological, Mutation, Transcription Factors, Homeodomain Proteins, Neuropilin-2
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review