The DOI matches its Crossref record; 188 of the 188 references it cites were found in a registry or an index.
Epigenetic genes and epilepsy — emerging mechanisms and clinical applications
Open accessAbstract
An increasing number of epilepsies are being attributed to variants in genes with epigenetic functions. The products of these genes include factors that regulate the structure and function of chromatin and the placing, reading and removal of epigenetic marks, as well as other epigenetic processes. In this Review, we provide an overview of the various epigenetic processes, structuring our discussion around five function-based categories: DNA methylation, histone modifications, histone-DNA crosstalk, non-coding RNAs and chromatin remodelling. We provide background information on each category, describing the general mechanism by which each process leads to altered gene expression. We also highlight key clinical and mechanistic aspects, providing examples of genes that strongly associate with epilepsy within each class. We consider the practical applications of these findings, including tissue-based and biofluid-based diagnostics and precision medicine-based treatments. We conclude that variants in epigenetic genes are increasingly found to be causally involved in the epilepsies, with implications for disease mechanisms, treatments and diagnostics.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
1 retracted
Adebayo, O. L., Dewenter, I., Rinne, L., Golubiani, G., Solomonia, R. O., & Müller, M. (2020) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2020.108666 · Cited by 6
RetractedCrystal structure of the nucleosome core particle at 2.8 Å resolution
Luger, K., Mäder, A. W., Richmond, R. K., Sargent, D. F., & Richmond, T. J. (1997) · Nature · doi:10.1038/38444 · Cited by 9,466
Regulation of chromatin by histone modifications
Bannister, A. J., & Kouzarides, T. (2011) · Cell Research · doi:10.1038/cr.2011.22 · Cited by 6,012
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
DNA methylation and its basic function
Moore, L. D., Le, T., & Fan, G. (2013) · Neuropsychopharmacology · doi:10.1038/npp.2012.112 · Cited by 4,906
CpG-rich islands and the function of DNA methylation
Bird, A. P. (1986) · Nature · doi:10.1038/321209a0 · Cited by 3,777
ACETYLATION AND METHYLATION OF HISTONES AND THEIR POSSIBLE ROLE IN THE REGULATION OF RNA SYNTHESIS
Allfrey, V. G., Faulkner, R. D., & Mirsky, A. E. (1964) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.51.5.786 · Cited by 2,649
The biology of chromatin remodeling complexes.
Clapier, C. R., & Cairns, B. (2009) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.77.062706.153223 · Cited by 2,384
Prevalence and incidence of epilepsy
Fiest, K. M., Sauro, K. M., Wiebe, S., Patten, S. B., Kwon, C., Dykeman, J., Pringsheim, T. M., Lorenzetti, D., & Jetté, N. (2016) · Neurology · doi:10.1212/wnl.0000000000003509 · Cited by 1,920
Mammalian Rho GTPases: new insights into their functions from in vivo studies
Heasman, S. J., & Ridley, A. J. (2008) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2476 · Cited by 1,871
Fabbri, M., Garzon, R., Cimmino, A., Liu, Z., Zanesi, N., Callegari, E., Liu, S., Alder, H., Costinean, S., Fernandez-Cymering, C., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0707628104 · Cited by 1,705
Proneural genes and the specification of neural cell types
Bertrand, N., Castro, D. S., & Guillemot, F. (2002) · Nature Reviews Neuroscience · doi:10.1038/nrn874 · Cited by 1,572
CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus
Hark, A. T., Schoenherr, C. J., Katz, D. J., Ingram, R. S., Levorse, J. M., & Tilghman, S. M. (2000) · Nature · doi:10.1038/35013106 · Cited by 1,547
De novo mutations in epileptic encephalopathies
Epi4K Consortium, & Epilepsy Phenome/Genome Project (2013) · Nature · doi:10.1038/nature12439 · Cited by 1,514
Lewis, J. D., Meehan, R. R., Henzel, W. J., Maurer-Fogy, I., Jeppesen, P., Klein, F., & Bird, A. (1992) · Cell · doi:10.1016/0092-8674(92)90610-o · Cited by 1,371
Distinct Factors Control Histone Variant H3.3 Localization at Specific Genomic Regions
Goldberg, A. D., Banaszynski, L. A., Noh, K., Lewis, P. W., Elsässer, S. J., Stadler, S. C., Dewell, S. B., Law, M. J., Guo, X., Li, X., et al. (2010) · Cell · doi:10.1016/j.cell.2010.01.003 · Cited by 1,351
Editing DNA Methylation in the Mammalian Genome
Liu, X. S., Wu, H., Ji, X., Stelzer, Y., Wu, X., Czauderna, S., Shu, J., Dadon, D., Young, R. A., & Jaenisch, R. (2016) · Cell · doi:10.1016/j.cell.2016.08.056 · Cited by 1,224
Steinlein, O. K., Mulley, J. C., Propping, P., Wallace, R. H., Phillips, H. A., Sutherland, G. R., Scheffer, I. E., & Berkovic, S. F. (1995) · Nature Genetics · doi:10.1038/ng1095-201 · Cited by 1,134
Targeting epigenetic regulators for cancer therapy: mechanisms and advances in clinical trials
Cheng, Y., He, C., Wang, M., Ma, X., Mo, F., Yang, S., Han, J., & Wei, X. (2019) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-019-0095-0 · Cited by 1,097
Waddington, C. H. (2012) · International Journal of Epidemiology · doi:10.1093/ije/dyr184 · Cited by 1,082
Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., et al. (2012) · The Lancet · doi:10.1016/s0140-6736(12)61480-9 · Cited by 1,041
DNA methylation and gene activity
Cedar, H. (1988) · Cell · doi:10.1016/0092-8674(88)90479-5 · Cited by 907
Tachibana, M., Ueda, J., Fukuda, M., Takeda, N., Ohta, T., Iwanari, H., Sakihama, T., Kodama, T., Hamakubo, T., & Shinkai, Y. (2005) · Genes & Development · doi:10.1101/gad.1284005 · Cited by 868
Non-coding RNAs as regulators in epigenetics
Wei, J., Huang, K., Yang, C., & Kang, C. (2016) · Oncology Reports · doi:10.3892/or.2016.5236 · Cited by 797
THE QUANTITATIVE SEPARATION OF PURINES, PYRIMIDINES, AND NUCLEOSIDES BY PAPER CHROMATOGRAPHY
Hotchkiss, R. D. (1948) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)57261-6 · Cited by 765
MicroRNA-directed transcriptional gene silencing in mammalian cells
Kim, D. H., Sætrom, P., Snøve, O., & Rossi, J. J. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0808830105 · Cited by 723
Iwase, S., Lan, F., Bayliss, P. E., de la Torre-Ubieta, L., Huarte, M., Qi, H. H., Whetstine, J. R., Bonni, A., Roberts, T. M., & Shi, Y. (2007) · Cell · doi:10.1016/j.cell.2007.02.017 · Cited by 708
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J., Khan, A., Dorschner, M. O., Weaver, M., Calvert, S., et al. (2013) · Nature Genetics · doi:10.1038/ng.2646 · Cited by 687
Self-citationNeurogenin promotes neurogenesis and inhibits glial differentiation by independent mechanisms.
Sun, Y., Nadal-Vicens, M., Misono, S., Lin, M. Z., Zubiaga, A., Hua, X., Fan, G., & Greenberg, M. E. (2001) · Cell · doi:10.1016/s0092-8674(01)00224-0 · Cited by 681
DNA methylation and histone modifications: teaming up to silence genes
Fuks, F. (2005) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2005.08.002 · Cited by 669
Gibbons, R. J., Picketts, D. J., Villard, L., & Higgs, D. R. (1995) · Cell · doi:10.1016/0092-8674(95)90287-2 · Cited by 628
Somatic mutation, genomic variation, and neurological disease
Poduri, A., Evrony, G. D., Cai, X., & Walsh, C. A. (2013) · Science · doi:10.1126/science.1237758 · Cited by 584
An estimate of the total number of true human miRNAs
Alles, J., Fehlmann, T., Fischer, U., Backes, C., Galata, V., Minet, M., Hart, M., Abu-Halima, M., Grässer, F. A., Lenhof, H.-P., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz097 · Cited by 567
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Helbig, I., Mefford, H. C., Sharp, A. J., Guipponi, M., Fichera, M., Franke, A., Muhle, H., de Kovel, C., Baker, C., von Spiczak, S., et al. (2009) · Nature Genetics · doi:10.1038/ng.292 · Cited by 551
Double chromodomains cooperate to recognize the methylated histone H3 tail
Flanagan, J. F., Mi, L.-Z., Chruszcz, M., Cymborowski, M., Clines, K. L., Kim, Y., Minor, W., Rastinejad, F., & Khorasanizadeh, S. (2005) · Nature · doi:10.1038/nature04290 · Cited by 528
DNA methylation and memory formation
Day, J. J., & Sweatt, J. D. (2010) · Nature Neuroscience · doi:10.1038/nn.2666 · Cited by 501
Sinkkonen, L., Hugenschmidt, T., Berninger, P., Gaidatzis, D., Mohn, F., Artus-Revel, C. G., Zavolan, M., Svoboda, P., & Filipowicz, W. (2008) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.1391 · Cited by 497
Gibbons, R. J., McDowell, T. L., Raman, S., O’Rourke, D., Garrick, D., Ayyub, H., & Higgs, D. R. (2000) · Nature Genetics · doi:10.1038/74191 · Cited by 495
Wang, J., Lin, Z.-J., Liu, L., Xu, H., Shi, Y., Yi, Y., He, N., & Liao, W. (2016) · Seizure · doi:10.1016/j.seizure.2016.11.030 · Cited by 488
The International League Against Epilepsy Consortium on Complex Epilepsies, Abou-Khalil, B., Auce, P., Avbersek, A., Bahlo, M., Balding, D. J., Bast, T., Baum, L., Becker, A. J., Becker, F., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-07524-z · Cited by 482
Self-citationMizuguchi, R., Sugimori, M., Takebayashi, H., Kosako, H., Nagao, M., Yoshida, S., Nabeshima, Y., Shimamura, K., & Nakafuku, M. (2001) · Neuron · doi:10.1016/s0896-6273(01)00413-5 · Cited by 471
Epigenetic mechanisms in neurological disease
Jakovcevski, M., & Akbarian, S. (2012) · Nature Medicine · doi:10.1038/nm.2828 · Cited by 450
Post-Transcriptional Genetic Silencing of BCL11A to Treat Sickle Cell Disease
Esrick, E. B., Lehmann, L. E., Biffi, A., Achebe, M., Brendel, C., Ciuculescu, M. F., Daley, H., MacKinnon, B., Morris, E., Federico, A., et al. (2021) · New England Journal of Medicine · doi:10.1056/nejmoa2029392 · Cited by 449
Epigenetic tools (The Writers, The Readers and The Erasers) and their implications in cancer therapy
Biswas, S., & Rao, C. M. (2018) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2018.08.021 · Cited by 442
Benetti, R., Gonzalo, S., Jaco, I., Muñoz, P., González, S., Schoeftner, S., Murchison, E. P., Andl, T., Chen, T., Klatt, P., et al. (2008) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.1399 · Cited by 439
G9a/GLP complexes independently mediate H3K9 and DNA methylation to silence transcription
Tachibana, M., Matsumura, Y., Fukuda, M., Kimura, H., & Shinkai, Y. (2008) · The EMBO Journal · doi:10.1038/emboj.2008.192 · Cited by 438
The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation
Tahiliani, M., Mei, P., Fang, R., Leonor, T., Rutenberg, M. S., Shimizu, F., Li, J., Rao, A., & Shi, Y. G. (2007) · Nature · doi:10.1038/nature05823 · Cited by 429
The cartilage specific microRNA‐140 targets histone deacetylase 4 in mouse cells
Tuddenham, L., Wheeler, G., Ntounia-Fousara, S., Waters, J., Hajihosseini, M. K., Clark, I., & Dalmay, T. (2006) · FEBS Letters · doi:10.1016/j.febslet.2006.06.080 · Cited by 422
Epigenetic Regulation in Neurodegenerative Diseases
Berson, A., Nativio, R., Berger, S. L., & Bonini, N. M. (2018) · Trends in Neurosciences · doi:10.1016/j.tins.2018.05.005 · Cited by 407
Sequential phases of cortical specification involve Neurogenin‐dependent and ‐independent pathways
Schuurmans, C. J., Armant, O., Nieto, M., Stenman, J. M., Britz, O., Klenin, N., Brown, C. E., Langevin, L.-M., Seibt, J., Tang, H., et al. (2004) · The EMBO Journal · doi:10.1038/sj.emboj.7600278 · Cited by 399
Kleefstra, T., Brunner, H. G., Amiel, J., Oudakker, A. R., Nillesen, W. M., Magee, A. C., Geneviève, D., Cormier‐Daire, V., Esch, H. V., Fryns, J., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/505693 · Cited by 395
Characterization of the CHD family of proteins
Woodage, T., Basrai, M. A., Baxevanis, A. D., Hieter, P., & Collins, F. S. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.21.11472 · Cited by 392
Jensen, L. R., Amende, M., Gurok, U., Moser, B., Gimmel, V., Tzschach, A., Janecke, A. R., Tariverdian, G., Chelly, J., Fryns, J.-P., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/427563 · Cited by 373
Epigenetic regulation of gene expression in physiological and pathological brain processes
Gräff, J., Kim, D., Dobbin, M. M., & Tsai, L.-H. (2011) · Physiological Reviews · doi:10.1152/physrev.00012.2010 · Cited by 373
Hand, R., Bortone, D. S., Mattar, P. A., Nguyen, L., Heng, J. I., Guerrier, S., Boutt, E., Peters, E. C., Barnes, A. P., Parras, C. M., et al. (2005) · Neuron · doi:10.1016/j.neuron.2005.08.032 · Cited by 363
The role of DNA methylation in setting up chromatin structure during development
Hashimshony, T., Zhang, J., Keshet, I., Bustin, M., & Cedar, H. (2003) · Nature Genetics · doi:10.1038/ng1158 · Cited by 359
Non-coding RNAs, epigenetics and complexity
Costa, F. F. (2007) · Gene · doi:10.1016/j.gene.2007.12.008 · Cited by 331
Aref‐Eshghi, E., Kerkhof, J., Pedro, V. P., Barat‐Houari, M., Pallarès-Ruiz, N., Andrau, J., Lacombe, D., Van‐Gils, J., Fergelot, P., Dubourg, C., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.01.019 · Cited by 324
Telley, L., Govindan, S., Prados, J., Stévant, I., Nef, S., Dermitzakis, E. T., Dayer, A. G., & Jabaudon, D. (2016) · Science · doi:10.1126/science.aad8361 · Cited by 315
Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies
Oyrer, J., Maljevic, S., Scheffer, I. E., Berkovic, S. F., Petrou, S., & Reid, C. A. (2018) · Pharmacological Reviews · doi:10.1124/pr.117.014456 · Cited by 315
Self-citationCytosine methylation and CpG, TpG (CpA) and TpA frequencies
Jabbari, K., & Bernardi, G. (2004) · Gene · doi:10.1016/j.gene.2004.02.043 · Cited by 284
DNA methylation models histone acetylation
Eden, S., Hashimshony, T., Keshet, I., Cedar, H., & Thorne, A. W. (1998) · Nature · doi:10.1038/29680 · Cited by 277
Luijsterburg, M. S., de Krijger, I., Wiegant, W. W., Shah, R. G., Smeenk, G., de Groot, A. J. L., Pines, A., Vertegaal, A. C. O., Jacobs, J. J. L., Shah, G. M., et al. (2016) · Molecular Cell · doi:10.1016/j.molcel.2016.01.019 · Cited by 277
Neurogenin 2 controls cortical neuron migration through regulation of Rnd2
Heng, J. I., Nguyen, L., Castro, D. S., Zimmer, C., Wildner, H., Armant, O., Skowronska‐Krawczyk, D., Bedogni, F., Matter, J.-M., Hevner, R. F., et al. (2008) · Nature · doi:10.1038/nature07198 · Cited by 276
Identification and Characterization of the Human Set1B Histone H3-Lys4 Methyltransferase Complex
Lee, J., Tate, C. M., You, J., & Skalnik, D. G. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.m609809200 · Cited by 271
Nan, X., Hou, J., Maclean, A. W., Nasir, J., Lafuente, M. J., Shu, X., Kriaučionis, S., & Bird, A. P. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0608056104 · Cited by 269
Dibbens, L. M., Mullen, S. A., Helbig, K. L., Mefford, H. C., Bayly, M. A., Bellows, S. T., Leu, C., Trucks, H., Obermeier, T., Wittig, M., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp311 · Cited by 268
Non-Coding RNAs: Multi-Tasking Molecules in the Cell
Gomes, A. Q., Nolasco, S., & Soares, H. (2013) · International Journal of Molecular Sciences · doi:10.3390/ijms140816010 · Cited by 268
McDowell, T. L., Gibbons, R. J., Sutherland, H. G. E., O’Rourke, D., Bickmore, W. A., Pombo, A., Turley, H., Gatter, K. C., Picketts, D. J., Buckle, V. J., et al. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.24.13983 · Cited by 264
SOD1 Suppression with Adeno-Associated Virus and MicroRNA in Familial ALS
Mueller, C., Berry, J. D., McKenna-Yasek, D. M., Gernoux, G., Owegi, M. A., Pothier, L. M., Douthwright, C. L., Gelevski, D., Luppino, S. D., Blackwood, M., et al. (2020) · New England Journal of Medicine · doi:10.1056/nejmoa2005056 · Cited by 264
MicroRNAs in epilepsy: pathophysiology and clinical utility
Henshall, D. C., Hamer, H. M., Pasterkamp, R. J., Goldstein, D. B., Kjems, J., Prehn, J. H. M., Schorge, S., Lamottke, K., & Rosenow, F. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(16)30246-0 · Cited by 248
Self-citationEpigenetics: The origins and evolution of a fashionable topic
Deichmann, U. (2016) · Developmental Biology · doi:10.1016/j.ydbio.2016.06.005 · Cited by 241
Malformations of cortical development and epilepsy
Leventer, R. J., Guerrini, R., & Dobyns, W. B. (2008) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2008.10.1/rjleventer · Cited by 238
The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis
Bérubé, N. G., Mangelsdorf, M., Jagla, M., Vanderluit, J., Garrick, D., Gibbons, R. J., Higgs, D. R., Slack, R. S., & Picketts, D. J. (2005) · Journal of Clinical Investigation · doi:10.1172/jci22329 · Cited by 225
Coupling of cell migration with neurogenesis by proneural bHLH factors
Ge, W., He, F., Kim, K. J., Blanchi, B., Coskun, V., Nguyen, L., Wu, X., Zhao, J., Heng, J. I., Martinowich, K., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0510419103 · Cited by 220
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study
Allen, A. S., Bellows, S. T., Berkovic, S. F., Bridgers, J., Burgess, R., Cavalleri, G. L., Chung, S., Cossette, P., Delanty, N., Dlugos, D., et al. (2017) · The Lancet Neurology · doi:10.1016/s1474-4422(16)30359-3 · Cited by 220
Suls, A., Jaehn, J. A., Kecskés, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djémié, T., Afrikanova, T., Gormley, P., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.09.017 · Cited by 219
Epileptogenesis in pediatric cortical dysplasia: The dysmature cerebral developmental hypothesis
Cepeda, C., André, V., Levine, M. S., Salamon, N., Miyata, H., Vinters, H. V., & Mathern, G. W. (2006) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2006.05.012 · Cited by 208
Mechanisms of human inherited epilepsies
Reid, C. A., Berkovic, S. F., & Petrou, S. (2008) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2008.09.016 · Cited by 207
Self-citationVoon, H. P. J., Hughes, J. R., Rode, C., Rosa-Velázquez, I. A. D. L., Jenuwein, T., Feil, R., Higgs, D. R., & Gibbons, R. J. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.03.036 · Cited by 198
Bledau, A. S., Schmidt, K., Neumann, K., Hill, U., Ciotta, G., Gupta, A. K., Torres, D. C., Fu, J., Kranz, A., Stewart, A. F., et al. (2014) · Development · doi:10.1242/dev.098152 · Cited by 192
Kan, A. A., van Erp, S., Derijck, A. A. H. A., de Wit, M., Hessel, E. V. S., O’Duibhir, E., de Jager, W., van Rijen, P. C., Gosselaar, P. H., Graan, P. N. E. D., et al. (2012) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-012-0992-7 · Cited by 191
Molecular Complexes at Euchromatin, Heterochromatin and Centromeric Chromatin
Morrison, O., & Thakur, J. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22136922 · Cited by 190
Yuan, J., Yang, F., Chen, B.-F., Lu, Z. J., Huo, X., Zhou, W., Wang, F., & Sun, S. (2010) · Hepatology · doi:10.1002/hep.24606 · Cited by 182
Mutations in the chromatin-associated protein ATRX
Gibbons, R. J., Wada, T., Fisher, C. A., Malik, N., Mitson, M., Steensma, D. P., Fryer, A. E., Goudie, D. R., Krantz, I. D., & Traeger‐Synodinos, J. (2008) · Human Mutation · doi:10.1002/humu.20734 · Cited by 181
Kernohan, K. D., Jiang, Y. Y., Tremblay, D. C., Bonvissuto, A. C., Eubanks, J. H., Mann, M. R. W., & Bérubé, N. G. (2010) · Developmental Cell · doi:10.1016/j.devcel.2009.12.017 · Cited by 180
Sandweiss, A. J., Brandt, V. L., & Zoghbi, H. Y. (2020) · The Lancet Neurology · doi:10.1016/s1474-4422(20)30217-9 · Cited by 180
NeuroD2 Is Necessary for Development and Survival of Central Nervous System Neurons
Olson, J. M., Asakura, A., Snider, L. D., Hawkes, R. B., Strand, A. D., Stoeck, J., Hallahan, A. R., Pritchard, J. I., & Tapscott, S. J. (2001) · Developmental Biology · doi:10.1006/dbio.2001.0245 · Cited by 174
Maintenance of Epigenetic InformationPreprint
Almouzni, G., & Cedar, H. (2016) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a019372 · Cited by 170
Alpha thalassaemia-mental retardation, X linked
Gibbons, R. J. (2006) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-1-15 · Cited by 161
Hemoglobin H Disease and Mental Retardation
Weatherall, D. J., Higgs, D. R., Bunch, C., et al. (1981) · New England Journal of Medicine · doi:10.1056/nejm198109103051103 · Cited by 154
Polygenic burden in focal and generalized epilepsies
Leu, C., Stevelink, R., Smith, A. C. W., Goleva, S. B., Kanai, M., Ferguson, L., Campbell, C., Kamatani, Y., Okada, Y., Sisodiya, S. M., et al. (2019) · Brain · doi:10.1093/brain/awz292 · Cited by 148
Epilepsy in Rett syndrome, and CDKL5‐ and FOXG1‐gene–related encephalopathies
Guerrini, R., & Parrini, E. (2012) · Epilepsia · doi:10.1111/j.1528-1167.2012.03656.x · Cited by 146
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling
Frega, M., Linda, K., Keller, J. M., Gümüş-Akay, G., Mossink, B., van Rhijn, J.-R., Negwer, M., Klein Gunnewiek, T., Foreman, K., Kompier, N., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-12947-3 · Cited by 137
Mechanistic principles of chromatin remodeling guided by siRNAs and miRNAs
González, S., Pisano, D. G., & Serrano, M. (2008) · Cell Cycle · doi:10.4161/cc.7.16.6541 · Cited by 136
Atrx deficiency induces telomere dysfunction, endocrine defects, and reduced life span
Watson, L. A., Solomon, L. A., Li, J. R., Jiang, Y. Y., Edwards, M., Shin‐ya, K., Beier, F., & Bérubé, N. G. (2013) · Journal of Clinical Investigation · doi:10.1172/jci65634 · Cited by 132
Iwase, S., Brookes, E., Agarwal, S., Badeaux, A. I., Ito, H., Vallianatos, C. N., Tomassy, G. S., Kasza, T., Lin, G. R., Thompson, A., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2015.12.091 · Cited by 132
Longitudinal course of epilepsy in Rett syndrome and related disorders
Tarquinio, D. C., Hou, W., Berg, A. T., et al. (2016) · Brain · doi:10.1093/brain/aww302 · Cited by 130
Sebastian, S., Sreenivas, P., Sambasivan, R., Cheedipudi, S. M., Kandalla, P. K., Pavlath, G. K., & Dhawan, J. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0807136106 · Cited by 127
Developmental lineage of cell types in cortical dysplasia with balloon cells
Lamparello, P., Baybis, M., Pollard, J., Hol, E. M., Eisenstat, D. D., Aronica, E., & Crino, P. B. (2007) · Brain · doi:10.1093/brain/awm175 · Cited by 120
NovelJARID1C/SMCX mutations in patients with X-linked mental retardation
Tzschach, A., Lenzner, S., Moser, B. A., Reinhardt, R., Chelly, J., Fryns, J., Kleefstra, T., Raynaud, M., TURNER, G. M., Ropers, H., et al. (2006) · Human Mutation · doi:10.1002/humu.9420 · Cited by 119
Genetic and Epigenetic Determinants of Neurogenesis and Myogenesis
Fong, A. P., Yao, Z., Zhong, J. W., Cao, Y., Ruzzo, W. L., Gentleman, R. C., & Tapscott, S. J. (2012) · Developmental Cell · doi:10.1016/j.devcel.2012.01.015 · Cited by 119
Histone variant H3.3 provides the heterochromatic H3 lysine 9 tri-methylation mark at telomeres
Udugama, M., Chang, F. T. M., Chan, F. L., Tang, M. C., Pickett, H. A., McGhie, J. D. R., Mayne, L., Collas, P., Mann, J. R., & Wong, L. H. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv847 · Cited by 109
Raoof, R., Bauer, S., El Naggar, H., Connolly, N. M. C., Brennan, G. P., Brindley, E., Hill, T., McArdle, H., Spain, E., Forster, R. J., et al. (2018) · eBioMedicine · doi:10.1016/j.ebiom.2018.10.068 · Cited by 106
Self-citationGrafodatskaya, D., Chung, B. H., Butcher, D. T., Turinsky, A. L., Goodman, S. J., Choufani, S., Chen, Y. A., Lou, Y., Zhao, C., Rajendram, R., et al. (2013) · BMC Medical Genomics · doi:10.1186/1755-8794-6-1 · Cited by 103
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment
Thakran, S., Guin, D., Singh, P., Singh, P., Kukal, S., Rawat, C., Yadav, S., Kushwaha, S. S., Srivastava, A. K., Hasija, Y., et al. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21207784 · Cited by 103
Ventral Neurogenesis and the Neuron-Glial Switch
Kessaris, N., Pringle, N. P., & Richardson, W. D. (2001) · Neuron · doi:10.1016/s0896-6273(01)00430-5 · Cited by 100
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures
Thomas, R. H., Zhang, L. M., Carvill, G. L., Archer, J. S., Heavin, S. B., Mandelstam, S. A., Craiu, D., Berkovic, S. F., Gill, D. S., Mefford, H. C., et al. (2015) · Neurology · doi:10.1212/wnl.0000000000001305 · Cited by 100
Self-citationBlümcke, I., Coras, R., Busch, R. M., Morita, M. E., Lal, D., Prayson, R. A., Cendes, F., Lopes‐Cendes, Í., Rogério, F., de Almeida, V. S., et al. (2021) · Epilepsia · doi:10.1111/epi.16899 · Cited by 96
Self-citationMECP2, a multi-talented modulator of chromatin architecture
Ragione, F. D., Vacca, M., Fioriniello, S., Pepe, G., & D’Esposito, M. (2016) · Briefings in Functional Genomics · doi:10.1093/bfgp/elw023 · Cited by 95
Emerling, B. M., Bonifas, J. M., Kratz, C. P., Donovan, S., Taylor, B. R., Green, E. D., Beau, M. M. L., & Shannon, K. (2002) · Oncogene · doi:10.1038/sj.onc.1205615 · Cited by 94
MBD5 and MBD6 couple DNA methylation to gene silencing through the J-domain protein SILENZIO
Ichino, L., Boone, B. A., Strauskulage, L., Harris, C. J., Kaur, G., Gladstone, M. A., Tan, M., Feng, S., Jami‐Alahmadi, Y., Duttke, S. H. C., et al. (2021) · Science · doi:10.1126/science.abg6130 · Cited by 92
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
O’Donnell‐Luria, A., Pais, L. S., Faùndes, V., Wood, J. C., Sveden, A., Luria, V. A., Jamra, R. A., Accogli, A., Amburgey, K., Anderlid, B. M., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.03.021 · Cited by 91
Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes
Ehrhart, F., Coort, S. L., Cirillo, E., Smeets, E., Evelo, C. T., & Curfs, L. (2016) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-016-0545-5 · Cited by 91
Brookes, E., Laurent, B., Õunap, K., Carroll, R., Moeschler, J. B., Field, M. J., Schwartz, C. E., Gécz, J., & Shi, Y. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv046 · Cited by 88
FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms
Wong, L., Singh, S., Wang, H.-P., Hsu, C., Hu, S., & Lee, W. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20174176 · Cited by 88
MLL5 (KMT2E): structure, function, and clinical relevance
Zhang, X., Novera, W., Zhang, Y., & Deng, L. (2017) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-017-2470-8 · Cited by 87
Bell, S., Rousseau, J., Peng, H., Aouabed, Z., Priam, P., Théroux, J., Jefri, M., Tanti, A., Wu, H., Kolobova, I., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.03.022 · Cited by 87
Epigenetic interventions for epileptogenesis: A new frontier for curing epilepsy
Younus, I., & Reddy, D. S. (2017) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2017.03.002 · Cited by 85
Chd2 Is Necessary for Neural Circuit Development and Long-Term Memory
Kim, Y. J., Khoshkhoo, S., Frankowski, J. C., Zhu, B., Abbasi, S., Lee, S., Wu, Y. E., & Hunt, R. F. (2018) · Neuron · doi:10.1016/j.neuron.2018.09.049 · Cited by 81
The zinc finger proteins ZNF644 and WIZ regulate the G9a/GLP complex for gene repression
Bian, C., Chen, Q., & Yu, X. (2015) · eLife · doi:10.7554/elife.05606 · Cited by 79
Noack, F., Vangelisti, S., Raffl, G., Carido, M., Diwakar, J., Chong, F., & Bonev, B. (2022) · Nature Neuroscience · doi:10.1038/s41593-021-01002-4 · Cited by 76
De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism
Hiraide, T., Nakashima, M., Yamoto, K., Fukuda, T., Kato, M., Ikeda, H., Sugie, Y., Aoto, K., Kaname, T., Nakabayashi, K., et al. (2018) · Human Genetics · doi:10.1007/s00439-017-1863-y · Cited by 75
Schenkel, L. C., Kernohan, K. D., McBride, A., Ditta, R., Hodge, A., Ainsworth, P., Rodenhiser, D. I., Paré, G., Bérubé, N. G., Skinner, C. D., et al. (2017) · Epigenetics & Chromatin · doi:10.1186/s13072-017-0118-4 · Cited by 74
Neuronal Death Resulting from Targeted Disruption of the Snf2 Protein ATRX Is Mediated by p53
Seah, C., Levy, M. A., Jiang, Y. Y., Mokhtarzada, S., Higgs, D. R., Gibbons, R. J., & Bérubé, N. G. (2008) · Journal of Neuroscience · doi:10.1523/jneurosci.4048-08.2008 · Cited by 74
Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy
Lamar, K., & Carvill, G. L. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00208 · Cited by 69
Self-citationShioda, N., Beppu, H., Fukuda, T., Li, E., Kitajima, I., & Fukunaga, K. (2011) · Journal of Neuroscience · doi:10.1523/jneurosci.4816-10.2011 · Cited by 69
Patriarchi, T., Amabile, S., Frullanti, E., Landucci, E., Rizzo, C. L., Ariani, F., Costa, M., Olimpico, F., Hell, J. W., Vaccarino, F. M., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.216 · Cited by 66
Villard, L., Toutain, A., Lossi, A.-M., et al. (1996) · PubMed · Cited by 65
A genome-wide DNA methylation signature for SETD1B-related syndrome
Krzyzewska, I. M., Maas, S. M., Henneman, P., van der Lip, K., Venema, A., Baranano, K. W., Chassevent, A., Aref‐Eshghi, E., van Essen, A. J., Fukuda, T., et al. (2019) · Clinical Epigenetics · doi:10.1186/s13148-019-0749-3 · Cited by 64
Zhang, Y., Cao, S.-X., Sun, P., He, H.-Y., Yang, C.-H., Chen, X., Shen, C.-J., Wang, X., Chen, Z., Berg, D. K., et al. (2016) · Cell Research · doi:10.1038/cr.2016.48 · Cited by 62
Frega, M., Selten, M. M., Mossink, B., Keller, J. M., Linda, K., Moerschen, R., Qu, J., Koerner, P., Jansen, S. M. J., Bijvank, E., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2019.12.002 · Cited by 59
PRC2 and EHMT1 regulate H3K27me2 and H3K27me3 establishment across the zygote genome
Meng, T., Zhou, Q., Ma, X., Liu, X., Meng, Q., Huang, X., Liu, H., Lei, W., Zhao, Z., Ouyang, Y., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-20242-9 · Cited by 59
Cardoso, C., Lutz, Y., Mignon, C., et al. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.10.746 · Cited by 57
Miyoshi, G., Ueta, Y., Natsubori, A., Hiraga, K., Osaki, H., Yagasaki, Y., Kishi, Y., Yanagawa, Y., Fishell, G., Machold, R. P., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-23987-z · Cited by 54
Schoch, K., Meng, L., Szelinger, S., Bearden, D., Stray‐Pedersen, A., Busk, Ø. L., Stong, N., Liston, E., Cohn, R. D., Scaglia, F., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.12.013 · Cited by 50
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies
Balestrini, S., Chiarello, D., Gogou, M., Silvennoinen, K., Puvirajasinghe, C., Jones, W. D., Reif, P., Klein, K. M., Rosenow, F., Weber, Y. G., et al. (2021) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp-2020-325932 · Cited by 49
Symonds, J. D., Joss, S. K., Metcalfe, K., Somarathi, S., Cruden, J., Devlin, A. M., Donaldson, A., Donato, N. D., FitzPatrick, D. R., Kaiser, F. J., et al. (2017) · Epilepsia · doi:10.1111/epi.13669 · Cited by 49
Runge, K., Mathieu, R., Bugeon, S., Lafi, S., Beurrier, C., Sahu, S., Schaller, F., Loubat, A., Hérault, L., Gaillard, S., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01179-x · Cited by 49
Sega, A. G., Mis, E. K., Lindstrom, K., Mercimek‐Andrews, S., Ji, W., Cho, M. T., Juusola, J., Konstantino, M., Jeffries, L., Khokha, M. K., et al. (2018) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105322 · Cited by 48
Enright, N., Simonato, M., & Henshall, D. C. (2018) · Epilepsia Open · doi:10.1002/epi4.12275 · Cited by 48
Self-citationPatient mutations alter ATRX targeting to PML nuclear bodies
Bérubé, N. G., Healy, J., Medina, C. F., Wu, S., Hodgson, T. R., Jagla, M., & Picketts, D. J. (2007) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201943 · Cited by 46
Reprogramming of DNA methylation at NEUROD2-bound sequences during cortical neuron differentiation
Hahn, M. A., Jin, S., Li, A. X., Liu, J., Huang, Z., Wu, X., Kim, B.-W., Johnson, J. S., Bilbao, A.-D. V., Tao, S., et al. (2019) · Science Advances · doi:10.1126/sciadv.aax0080 · Cited by 45
Marafi, D., Suter, B., Schultz, R., Glaze, D. G., Pavlik, V., & Goldman, A. M. (2018) · Neurology · doi:10.1212/wnl.0000000000006742 · Cited by 44
Self-citationBeltrán‐Corbellini, Á., Aledo‐Serrano, Á., Møller, R. S., Pérez‐Palma, E., García‐Morales, I., Toledano, R., & Gil‐Nagel, A. (2022) · Frontiers in Neurology · doi:10.3389/fneur.2022.777115 · Cited by 44
Howard, M. T., Malik, N., Anderson, C. B., Voskuil, J. L. A., Atkins, J. F., & Gibbons, R. J. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2004.020248 · Cited by 43
Carmignac, V., Nambot, S., Lehalle, D., Callier, P., Moortgat, S., Benoît, V., Ghoumid, J., Delobel, B., Smol, T., Thuillier, C., et al. (2020) · Clinical Genetics · doi:10.1111/cge.13755 · Cited by 42
Reschke, C. R., Silva, L. F. A., Vangoor, V. R., Rosso, M., David, B., Cavanagh, B. L., Connolly, N. M. C., Brennan, G. P., Sanz-Rodriguez, A., Mooney, C., et al. (2021) · Molecular Therapy · doi:10.1016/j.ymthe.2021.02.021 · Cited by 42
Self-citationChen, F., Moran, J., Zhang, Y., Ates, K. M., Yu, D., Schrader, L. A., Das, P. M., Jones, F. E., & Hall, B. J. (2016) · The Journal of Physiology · doi:10.1113/jp271953 · Cited by 40
Hiraide, T., Hattori, A., Ieda, D., Hori, I., Saitoh, S., Nakashima, M., & Saitsu, H. (2019) · Epilepsia Open · doi:10.1002/epi4.12339 · Cited by 39
GLP-catalyzed H4K16me1 promotes 53BP1 recruitment to permit DNA damage repair and cell survival
Lu, X., Tang, M., Zhu, Q., Yang, Q., Li, Z., Bao, Y., Liu, G., Hou, T., Lv, Y., Zhao, Y., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz897 · Cited by 39
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Weerts, M. J. A., Lanko, K., Guzmán‐Vega, F. J., Jackson, A., Ramakrishnan, R., Cardona‐Londoño, K. J., Peña‐Guerra, K. A., van Bever, Y., van Paassen, B. W., Kievit, A. J. A., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01246-2 · Cited by 38
Aref‐Eshghi, E., Kerkhof, J., Pedro, V. P., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.04.022 · Cited by 38
Nogami, T., Beppu, H., Tokoro, T., Moriguchi, S., Shioda, N., Fukunaga, K., Ohtsuka, T., Ishii, Y., Sasahara, M., Shimada, Y., et al. (2010) · Hippocampus · doi:10.1002/hipo.20782 · Cited by 37
SETD1B-associated neurodevelopmental disorder
Roston, A., Evans, D., Gill, H., et al. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106756 · Cited by 36
Wilson, M., Henshall, D. C., Byrne, S. M., & Brennan, G. P. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22020588 · Cited by 33
Self-citationKobow, K., Reid, C. A., van Vliet, E. A., Becker, A. J., Carvill, G. L., Goldman, A. M., Hirose, S., Lopes‐Cendes, Í., Khiari, H. M., Poduri, A., et al. (2020) · Epileptic Disorders · doi:10.1684/epd.2020.1143 · Cited by 31
Self-citationDeutsch, S. I., Rosse, R. B., Long, K. D., Gaskins, B. L., Burket, J. A., & Mastropaolo, J. P. (2008) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2007.11.004 · Cited by 29
Dysregulation of NEUROG2 plays a key role in focal cortical dysplasia
Avansini, S. H., Torres, F. R., Vieira, A. S., Dogini, D. B., Rogério, F., Coan, A. C., Morita, M. E., Guerreiro, M. M., Yasuda, C. L., Secolin, R., et al. (2018) · Annals of Neurology · doi:10.1002/ana.25187 · Cited by 29
Cossée, M., Faivre, L. O., Philippe, C., Hichri, H., Martin, A. D. S., Laugel, V., Bahi‐Buisson, N., Lemaitre, J., Leheup, B., Delobel, B., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33785 · Cited by 28
Timpano, S., & Picketts, D. J. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00885 · Cited by 28
Weise, S. C., Arumugam, G., Villarreal, A., Videm, P., Heidrich, S., Nebel, N., Dumit, V. I., Sananbenesi, F., Reimann, V., Craske, M., et al. (2018) · Molecular Neurobiology · doi:10.1007/s12035-018-1444-7 · Cited by 27
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
Chatron, N., Møller, R. S., Champaigne, N. L., Schneider, A., Kuechler, A., Labalme, A., Simonet, T., Baggett, L., Bardel, C., Kamsteeg, E., et al. (2018) · Annals of Neurology · doi:10.1002/ana.25222 · Cited by 26
Self-citationVelmans, C., O’Donnell‐Luria, A., Argilli, E., Mau‐Them, F. T., Vitobello, A., Chan, M. C. Y., Fung, J. L. F., Rech, M., Abicht, A., Aubert‐Mucca, M., et al. (2021) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2020-107470 · Cited by 25
Testa, G., Olimpico, F., Pancrazi, L., Borello, U., Cattaneo, A., Caleo, M., Costa, M., & Mainardi, M. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20174127 · Cited by 24
Peron, A., Canevini, M. P., Ghelma, F., Arancio, R., Savini, M. N., & Vignoli, A. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2020-107333 · Cited by 24
Transcriptomic and Epigenomic Landscape in Rett Syndrome
Marano, D., Fioriniello, S., D’Esposito, M., & Ragione, F. D. (2021) · Biomolecules · doi:10.3390/biom11070967 · Cited by 24
Mosaic expression of Atrx in the central nervous system causes memory deficits
Tamming, R. J., Siu, J. R., Jiang, Y. Y., Prado, M. A. M., Beier, F., & Bérubé, N. G. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.027482 · Cited by 21
Smirnov, K., Stroganova, T. A., Molholm, S., & Sysoeva, O. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22105308 · Cited by 21
Antagomir-mediated suppression of microRNA-134 reduces kainic acid-induced seizures in immature mice
Campbell, A., Morris, G., Heller, J. P., Langa, E., Brindley, E., Worm, J., Jensen, M. A., Miller, M. T., Henshall, D. C., & Reschke, C. R. (2021) · Scientific Reports · doi:10.1038/s41598-020-79350-7 · Cited by 20
Self-citationColeman, J. A. C., Sarasua, S. M., Boccuto, L., Moore, H. W., Skinner, S. A., & DeLuca, J. M. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62412 · Cited by 20
A novel de novo frameshift variant in SETD1B causes epilepsy
Den, K., Kato, M., Yamaguchi, T., Miyatake, S., Takata, A., Mizuguchi, T., Miyake, N., Mitsuhashi, S., & Matsumoto, N. (2019) · Journal of Human Genetics · doi:10.1038/s10038-019-0617-1 · Cited by 19
Fichera, M., Failla, P., Saccuzzo, L., et al. (2019) · Human Genetics · doi:10.1007/s00439-019-01972-3 · Cited by 18
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
Myers, K. A., Marini, C., Carvill, G. L., McTague, A., Panetta, J., Stutterd, C., Stanley, T., Marin, S. E., Nguyen, J., Barba, C., et al. (2021) · Neurology Genetics · doi:10.1212/nxg.0000000000000579 · Cited by 18
Self-citationSharawat, I. K., Panda, P. K., & Dawman, L. (2020) · Neuropediatrics · doi:10.1055/s-0040-1715629 · Cited by 17
Konishi, Y., Matsuura, T., Mikoshiba, K., & Tamura, T. (2001) · Molecular Brain Research · doi:10.1016/s0169-328x(01)00308-4 · Cited by 17
Epilepsy in classic Rett syndrome: Course and characteristics in adult age
Henriksen, M. W., Breck, H., von Tetzchner, S., et al. (2018) · Epilepsy Research · doi:10.1016/j.eplepsyres.2018.06.012 · Cited by 16
Testa, G., Mainardi, M., Olimpico, F., Pancrazi, L., Cattaneo, A., Caleo, M., & Costa, M. (2019) · Neuropharmacology · doi:10.1016/j.neuropharm.2019.01.005 · Cited by 16
ODLURO syndrome: personal experience and review of the literature
Conforti, R., Iovine, S., Santangelo, G., et al. (2020) · La radiologia medica · doi:10.1007/s11547-020-01255-2 · Cited by 16
Negwer, M., Piera, K., Hesen, R., Lütje, L., Aarts, L., Schubert, D., & Kasri, N. N. (2020) · Brain Structure and Function · doi:10.1007/s00429-020-02149-9 · Cited by 15
Inactivation of ATRX in forebrain excitatory neurons affects hippocampal synaptic plasticity
Gugustea, R., Tamming, R. J., Martin‐Kenny, N., Bérubé, N. G., & Leung, L.-W. S. (2019) · Hippocampus · doi:10.1002/hipo.23174 · Cited by 14
Expansion of NEUROD2 phenotypes to include developmental delay without seizures
Mis, E. K., Sega, A. G., Signer, R. H., et al. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62064 · Cited by 14
Marballi, K. K., & MacDonald, J. L. (2021) · Neurochemistry International · doi:10.1016/j.neuint.2021.105076 · Cited by 14
Li, Y., Fan, L., Luo, R., et al. (2021) · Frontiers in Pediatrics · doi:10.3389/fped.2021.641841 · Cited by 13
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
Chatron, N., Møller, R. S., Champaigne, N. L., Schneider, A., Kuechler, A., Labalme, A., Simonet, T., Baggett, L., Bardel, C., Kamsteeg, E., et al. (2018) · Annals of Neurology · doi:10.1002/ana.v83.5 · Cited by 13
Self-citationDeutsch, S. I., Mastropaolo, J. P., Burket, J. A., & Rosse, R. B. (2009) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2008.12.011 · Cited by 12
Davis, B. A., David, F., O’Regan, C., Adam, M. A., Harwood, A. J., Crunelli, V., & Isles, A. R. (2020) · Brain and Neuroscience Advances · doi:10.1177/2398212820928647 · Cited by 7
Castells, A. A., Balada, R., Tristán‐Noguero, A., O’Callaghan, M., Cortès‐Saladelafont, E., Pascual‐Alonso, A., García‐Cazorla, À., Armstrong, J., & Alcántara, S. (2021) · Biomedicines · doi:10.3390/biomedicines9020148 · Cited by 6
Flagged first, then by citations
Cited by
Sorted by citations
Developmental and epileptic encephalopathies
Scheffer, I. E., Zuberi, S., Mefford, H. C., Guerrini, R., & McTague, A. (2024) · Nature Reviews Disease Primers · doi:10.1038/s41572-024-00546-6 · Cited by 158
Metadata
- Authors
- Van Loo, K. M. J., Carvill, G. L., Becker, A. J., Conboy, K., Goldman, A. M., Kobow, K., Lopes-Cendes, I., Reid, C. A., van Vliet, E. A., & Henshall, D. C.
- Affiliations
- Northwestern University (US)
- University of Bonn (DE)
- Royal College of Surgeons in Ireland (IE)
- Baylor College of Medicine (US)
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- The University of Melbourne (AU)
- Corresponding author
- Henshall, David C.
- ORCID
- Venue
- Nature Reviews Neurology
- Published
- 2022-07-20
- Volume
- 18
- Issue
- 9
- Pages
- 530-543
- ISSN
- 1759-4758 (ISSN-L)
- 1759-4766
- OpenAlex
- W4286005819
- Cited by
- 68
- References
- 188
- Citations by year
- 2026: 15 · 2025: 18 · 2024: 18 · 2023: 14 · 2022: 3
- FWCI
- 2.28
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Nature Reviews Neurology (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (acceptedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- UvA-DARE (University of Amsterdam) (submittedVersion, other-oa)
- RWTH Publications (RWTH Aachen) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Funders
- European Commission (HORIZON2020, 825348)
- Science Foundation Ireland (16/RC/3948)
- Deutsche Forschungsgemeinschaft (FOR‐2715)
- European Regional Development Fund (16/RC/3948)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- epilepsy, epigenetic genes, DNA methylation, histone modifications, non-coding RNA, chromatin remodeling, genetic variants, gene expression regulation, precision medicine, biofluid biomarkers
- MeSH terms
- Epilepsy, Histones, Humans, Protein Processing, Post-Translational, DNA Methylation, Epigenesis, Genetic
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