Mutations of DEPDC5 cause autosomal dominant focal epilepsies
Open accessAbstract
The main familial focal epilepsies are autosomal dominant nocturnal frontal lobe epilepsy, familial temporal lobe epilepsy and familial focal epilepsy with variable foci. A frameshift mutation in the DEPDC5 gene (encoding DEP domain-containing protein 5) was identified in a family with focal epilepsy with variable foci by linkage analysis and exome sequencing. Subsequent pyrosequencing of DEPDC5 in a cohort of 15 additional families with focal epilepsies identified 4 nonsense mutations and 1 missense mutation. Our findings provided evidence of frequent (37%) loss-of-function mutations in DEPDC5 associated with a broad spectrum of focal epilepsies. The implication of a DEP (Dishevelled, Egl-10 and Pleckstrin) domain-containing protein that may be involved in membrane trafficking and/or G protein signaling opens new avenues for research.
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DEPDC5 pathogenic variants were first reported in familial focal epilepsies, and later associated with DEEs.
“DEPDC5 pathogenic variants were first reported in familial focal epilepsies 127,128 , and later associated with DEEs 129 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [128]
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Nagase, T. (1998) · DNA Research · doi:10.1093/dnares/5.1.31 · Cited by 845 · see citing works
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
Kalachikov, S. M., Evgrafov, O. V., Ross, B., Winawer, M. R., Barker‐Cummings, C., Boneschi, F. M., Choi, C., Morozov, P. S., Das, K., Teplitskaya, E., et al. (2002) · Nature Genetics · doi:10.1038/ng832 · Cited by 617 · see citing works
Autosomal dominant nocturnal frontal lobe epilepsy
Scheffer, I. E., Bhatia, K. P., Lopes‐Cendes, Í., Fish, D. R., MARSDEN, C. D., Andermann, E., Andermann, F., Desbiens, R., Keene, D., Cendes, F., et al. (1995) · Brain · doi:10.1093/brain/118.1.61 · Cited by 502 · see citing works
Heron, S. E., Smith, K. R., Bahlo, M., Nobili, L., Kahana, E., Licchetta, L., Oliver, K. L., Mazarib, A., Afawi, Z., Korczyn, A., et al. (2012) · Nature Genetics · doi:10.1038/ng.2440 · Cited by 411 · see citing works
Localization of a gene for partial epilepsy to chromosome 10q
Ottman, R., RISCH, N. J., Hauser, W. A., Pedley, T. A., Lee, J. H., Barker‐Cummings, C., Lustenberger, A., Nagle, K. J., Lee, K. S., Scheuer, M. L., et al. (1995) · Nature Genetics · doi:10.1038/ng0595-56 · Cited by 348 · see citing works
Familial temporal lobe epilepsy: A common disorder identified in twins
Berkovic, S. F., McIntosh, A. M., Howell, R. A., Mitchell, A., Sheffield, L. J., & Hopper, J. L. (1996) · Annals of Neurology · doi:10.1002/ana.410400214 · Cited by 221 · see citing works
Miki, D., Ochi, H., Hayes, C. N., Abe, H., Yoshima, T., Aikata, H., Ikeda, K., Kumada, H., Toyota, J., Morizono, T., et al. (2011) · Nature Genetics · doi:10.1038/ng.876 · Cited by 176 · see citing works
Ishikawa, K.-I. (1998) · DNA Research · doi:10.1093/dnares/5.3.169 · Cited by 163 · see citing works
Dokudovskaya, S., Waharte, F., Schlessinger, A., Pieper, U., Devos, D. P., Cristea, I. M., Williams, R., Salamero, J., Chait, B. T., Šali, A., et al. (2011) · Molecular & Cellular Proteomics · doi:10.1074/mcp.m110.006478 · Cited by 145 · see citing works
Scheffer, I. E., Phillips, H. A., O'Brien, C. E., Saling, M. M., Wrennall, J. A., Wallace, R. H., Mulley, J. C., & Berkovic, S. F. (1998) · Annals of Neurology · doi:10.1002/ana.410440607 · Cited by 118 · see citing works
Mapping of a Gene Determining Familial Partial Epilepsy with Variable Foci to Chromosome 22q11-q12
Xiong, L., Labuda, M., Li, D., Hudson, T. J., Desbiens, R., Patry, G., Verret, S., Langevin, P., Mercho, S., Seni, M., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302649 · Cited by 94 · see citing works
Picard, F. (2000) · Brain · doi:10.1093/brain/123.6.1247 · Cited by 86 · see citing works
Self-citationFamilial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12
Berkovic, S. F., Serratosa, J. M., Phillips, H. A., Xiong, L., Andermann, E., Díaz‐Otero, F., Gómez‐Garre, P., Martín, M., Bullido, Y. F., Andermann, F., et al. (2004) · Epilepsia · doi:10.1111/j.0013-9580.2004.30502.x · Cited by 80 · see citing works
Seng, T. J., Ichimura, K., Liu, L., Tingby, O., Pearson, D., & Collins, V. (2005) · Genes, Chromosomes and Cancer · doi:10.1002/gcc.20181 · Cited by 53 · see citing works
Callenbach, P. M. C., van den Maagdenberg, A. M. J. M., Hottenga, J., van den Boogerd, E. H., de Coo, I. F. M., Lindhout, D., Frants, R. R., Sandkuijl, L. A., & Brouwer, O. F. (2003) · Epilepsia · doi:10.1046/j.1528-1157.2003.62302.x · Cited by 47 · see citing works
Klein, K. M., O'Brien, T. J., Praveen, K., Heron, S. E., Mulley, J. C., Foote, S. J., Berkovic, S. F., & Scheffer, I. E. (2012) · Epilepsia · doi:10.1111/j.1528-1167.2012.03585.x · Cited by 35 · see citing works
Advances on the Genetics of Mendelian Idiopathic Epilepsies
Baulac, S., & Baulac, M. (2010) · Clinics in Laboratory Medicine · doi:10.1016/j.cll.2010.07.008 · Cited by 22 · see citing works
Self-citationMorales‐Corraliza, J., Gómez‐Garre, P., Sanz, R. L., Díaz‐Otero, F., Gutiérrez‐Delicado, E., & Serratosa, J. M. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2010.02680.x · Cited by 17 · see citing works
[Autosomal dominant nocturnal frontal lobe epilepsy].
Thomas, P., Picard, F., Hirsch, É., Chatel, M., & Marescaux, C. (1998) · PubMed · Cited by 10 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Regulation of mTORC1 by amino acids
Bar-Peled, L., & Sabatini, D. M. (2014) · Trends in Cell Biology · doi:10.1016/j.tcb.2014.03.003 · Cited by 773 · see citing works
Neurodevelopmental Disorders: From Genetics to Functional Pathways
Parenti, I., Rabaneda, L. G., Schoen, H., & Novarino, G. (2020) · Trends in Neurosciences · doi:10.1016/j.tins.2020.05.004 · Cited by 634 · see citing works
Definition and diagnostic criteria of sleep-related hypermotor epilepsy
Tinuper, P., Bisulli, F., Cross, J. H., Hesdorffer, D., Kahane, P., Nobili, L., Provini, F., Scheffer, I., Tassi, L., Vignatelli, L., et al. (2016) · Neurology · doi:10.1212/wnl.0000000000002666 · Cited by 274 · see citing works
Self-citationThe hidden genetics of epilepsy—a clinically important new paradigm
Thomas, R. H., & Berkovic, S. F. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2014.62 · Cited by 297 · see citing works
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations
Baulac, S., Ishida, S., Marsan, E., Miquel, C., Biraben, A., Nguyen, D., Nordli, D., Cossette, P., Nguyen, S., Lambrecq, V., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24368 · Cited by 279 · see citing works
Self-citationAdvancing epilepsy genetics in the genomic era
Myers, C. T., & Mefford, H. C. (2015) · Genome Medicine · doi:10.1186/s13073-015-0214-7 · Cited by 247 · see citing works
The landscape of epilepsy-related GATOR1 variants
Baldassari, S., Picard, F., Verbeek, N., van Kempen, M., Brilstra, E., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., et al. (2018) · Genetics in Medicine · doi:10.1038/s41436-018-0060-2 · Cited by 216 · see citing works
Self-citationDe novo mutations in HCN1 cause early infantile epileptic encephalopathy
Nava, C., Dalle, C., Rastetter, A., Striano, P., de Kovel, C. G. F., Nabbout, R., Cancés, C., Ville, D. M., Brilstra, E. H., Gobbi, G., et al. (2014) · Nature Genetics · doi:10.1038/ng.2952 · Cited by 232 · see citing works
Self-citationPerucca, P., Bahlo, M., & Berkovic, S. F. (2020) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-120219-074937 · Cited by 235 · see citing works
Multiple amino acid sensing inputs to mTORC1
Shimobayashi, M., & Hall, M. (2015) · Cell Research · doi:10.1038/cr.2015.146 · Cited by 216 · see citing works
The genetic basis of DOORS syndrome: an exome-sequencing study
Campeau, P. M., Kasperavičiūtė, D., Lu, J. T., Burrage, L. C., Kim, C., Hori, M., Powell, B. R., Stewart, F. A., Félix, T. M., van den Ende, J., et al. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70265-5 · Cited by 224 · see citing works
A roadmap for precision medicine in the epilepsies
† (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(15)00199-4 · Cited by 197 · see citing works
Architecture of the human GATOR1 and GATOR1–Rag GTPases complexes
Shen, K., Huang, R. K., Brignole, E. J., Condon, K. J., Valenstein, M. L., Chantranupong, L., Bomaliyamu, A., Choe, A., Hong, C., Yu, Z., et al. (2018) · Nature · doi:10.1038/nature26158 · Cited by 192 · see citing works
Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy
Marsan, E., & Baulac, S. (2018) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12463 · Cited by 162 · see citing works
Self-citationInvolvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia
Weckhuysen, S., Marsan, E., Lambrecq, V., Marchal, C., Morin‐Brureau, M., An-Gourfinkel, I., Baulac, M., Fohlen, M., Zetchi, C. K., Seeck, M., et al. (2016) · Epilepsia · doi:10.1111/epi.13391 · Cited by 181 · see citing works
Self-citationGermline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy
Møller, R., Weckhuysen, S., Chipaux, M., Marsan, E., Taly, V., Bebin, E., Hiatt, S., Prokop, J., Bowling, K. M., Mei, D., et al. (2016) · Neurology: Genetics · doi:10.1212/nxg.0000000000000118 · Cited by 138 · see citing works
Self-citationBalestrini, S., & Sisodiya, S. M. (2017) · Neuroscience Letters · doi:10.1016/j.neulet.2017.01.014 · Cited by 158 · see citing works
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy
Picard, F., Makrythanasis, P., Navarro, V., Ishida, S., de Bellescize, J., Ville, D., Weckhuysen, S., Fosselle, E., Suls, A., de Jonghe, P., et al. (2014) · Neurology · doi:10.1212/wnl.0000000000000488 · Cited by 142 · see citing works
Self-citationDevelopmental 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 128 · see citing works
Epilepsy in the mTORopathies: opportunities for precision medicine
Moloney, P. B., Cavalleri, G. L., & Delanty, N. (2021) · Brain Communications · doi:10.1093/braincomms/fcab222 · Cited by 126 · see citing works
Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.
Perucca, P., Scheffer, I., Harvey, A., James, P., Lunke, S., Thorne, N., Gaff, C., Regan, B. M., Damiano, J., Hildebrand, M. S., et al. (2017) · Epilepsy Research · doi:10.1016/j.eplepsyres.2017.02.001 · Cited by 103 · see citing works
DEPDC5 mutations in genetic focal epilepsies of childhood
Lal, D., Reinthaler, E., Schubert, J., Muhle, H., Riesch, E., Kluger, G., Jabbari, K., Kawalia, A., Baumel, C., Holthausen, H., et al. (2014) · Annals of Neurology · doi:10.1002/ana.24127 · Cited by 120 · see citing works
Yuskaitis, C. J., Jones, B. M., Wolfson, R. L., Super, C. E., Dhamne, S., Rotenberg, A., Sabatini, D., Şahin, M., & Poduri, A. (2017) · Neurobiology of Disease · doi:10.1016/j.nbd.2017.12.010 · Cited by 92 · see citing works
Seizing the moment: Zebrafish epilepsy models.
Gawel, K., Langlois, M., Martins, T., van der Ent, W., Tiraboschi, E., Jacmin, M., Crawford, A., & Esguerra, C. (2020) · Neuroscience and Biobehavioral Reviews · doi:10.1016/j.neubiorev.2020.06.010 · Cited by 97 · see citing works
Genetic and epigenetic mechanisms of epilepsy: a review
Chen, T., Giri, M., Xia, Z., Subedi, Y. N., & Li, Y. (2017) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s142032 · Cited by 105 · see citing works
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5
Scerri, T., Riseley, J. R., Gillies, G., Pope, K., Burgess, R., Mandelstam, S., Dibbens, L., Chow, C., Maixner, W., Harvey, A., et al. (2015) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.191 · Cited by 101 · see citing works
Depdc5 knockout rat: A novel model of mTORopathy.
Marsan, E., Ishida, S., Schramm, A. E., Weckhuysen, S., Muraca, G., Lecas, S., Liang, N., Treins, C., Pende, M., Roussel, D., et al. (2016) · Neurobiology of Disease · doi:10.1016/j.nbd.2016.02.010 · Cited by 95 · see citing works
Self-citationThe role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy
Becchetti, A., Aracri, P., Meneghini, S., Brusco, S., & Amadeo, A. (2015) · Frontiers in Physiology · doi:10.3389/fphys.2015.00022 · Cited by 102 · see citing works
The role of genetic testing in epilepsy diagnosis and management
Weber, Y., Biskup, S., Helbig, K., von Spiczak, S., & Lerche, H. (2017) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2017.1335598 · Cited by 87 · see citing works
The contribution of next generation sequencing to epilepsy genetics
Møller, R. S., Dahl, H. A., & Helbig, I. (2015) · Expert Review of Molecular Diagnostics · doi:10.1586/14737159.2015.1113132 · Cited by 88 · see citing works
Iffland, P. H., Carson, V., Bordey, A., & Crino, P. B. (2019) · Epilepsia · doi:10.1111/epi.16370 · Cited by 84 · see citing works
Nocturnal Frontal Lobe Epilepsy
Nobili, L., Proserpio, P., Combi, R., Provini, F., Plazzi, G., Bisulli, F., Tassi, L., & Tinuper, P. (2014) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-013-0424-6 · Cited by 85 · see citing works
mTOR signaling pathway genes in focal epilepsies
Baulac, S. (2016) · Progress in Brain Research · doi:10.1016/bs.pbr.2016.04.013 · Cited by 84 · see citing works
Self-citationLiu, A., Wu, Y., & Wang, Y. (2017) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2017.05.004 · Cited by 82 · see citing works
Molecular Architecture and Function of the SEA Complex, a Modulator of the TORC1 Pathway*
Algret, R., Fernandez-Martinez, J., Shi, Y., Kim, S. J., Pellarin, R., Cimermancic, P., Cochet, E., Sali, A., Chait, B., Rout, M., et al. (2014) · Molecular & Cellular Proteomics · doi:10.1074/mcp.m114.039388 · Cited by 84 · see citing works
GATOR1 complex: the common genetic actor in focal epilepsies
Baldassari, S., Licchetta, L., Tinuper, P., Bisulli, F., & Pippucci, T. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-103883 · Cited by 80 · see citing works
Conserved regulators of Rag GTPases orchestrate amino acid-dependent TORC1 signaling
Powis, K., & Virgilio, C. D. (2016) · Cell Discovery · doi:10.1038/celldisc.2015.49 · Cited by 83 · see citing works
Epileptic spasms are a feature of <i>DEPDC5</i> mTORopathy
Carvill, G. L., Crompton, D. E., Regan, B. M., McMahon, J. M., Saykally, J., Zemel, M., Schneider, A. L., Dibbens, L., Howell, K. B., Mandelstam, S., et al. (2015) · Neurology Genetics · doi:10.1212/nxg.0000000000000016 · Cited by 76 · see citing works
Precision medicine in genetic epilepsies: break of dawn?
Reif, P., Tsai, M.-H., Helbig, I., Rosenow, F., & Klein, K. (2017) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2017.1253476 · Cited by 67 · see citing works
The role of mTOR signalling in neurogenesis, insights from tuberous sclerosis complex
Tee, A. R., Sampson, J. R., Pal, D. K., & Bateman, J. M. (2016) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2016.01.040 · Cited by 73 · see citing works
SEA you later alli-GATOR – a dynamic regulator of the TORC1 stress response pathway
Dokudovskaya, S., & Rout, M. P. (2015) · Journal of Cell Science · doi:10.1242/jcs.168922 · Cited by 70 · see citing works
The tRNA-GCN2-FBXO22-axis-mediated mTOR ubiquitination senses amino acid insufficiency.
Ge, M.-K., Zhang, C., Zhang, N., He, P., Cai, H.-Y., Li, S., Wu, S., Chu, X.-L., Zhang, Y.-X., Ma, H.-M., et al. (2023) · Cell Metabolism · doi:10.1016/j.cmet.2023.10.016 · Cited by 69 · see citing works
Sleep-related hypermotor epilepsy: prevalence, impact and management strategies
Menghi, V., Bisulli, F., Tinuper, P., & Nobili, L. (2018) · Nature and Science of Sleep · doi:10.2147/nss.s152624 · Cited by 52 · see citing works
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
Reinthaler, E. M., Lal, D., Lebon, S., Hildebrand, M. S., Dahl, H. M., Regan, B. M., Feucht, M., Steinböck, H., Neophytou, B., Ronen, G. M., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu306 · Cited by 65 · see citing works
Beyond Indigestion: Emerging Roles for Lysosome-Based Signaling in Human Disease
Ferguson, S. (2015) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2015.04.014 · Cited by 64 · see citing works
Non-canonical mTOR-Independent Role of DEPDC5 in Regulating GABAergic Network Development.
Swaminathan, A., Hassan-Abdi, R., Renault, S., Siekierska, A., Riché, R., Liao, M.-J., de Witte, P. D., Yanicostas, C., Soussi-Yanicostas, N., Drapeau, P., et al. (2018) · Current Biology · doi:10.1016/j.cub.2018.04.061 · Cited by 49 · see citing works
Hughes, J. N., Dawson, R. E., Tea, M. N., McAninch, D., Piltz, S. G., Jackson, D., Stewart, L. W., Ricos, M. G., Dibbens, L., Harvey, N. L., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-12574-2 · Cited by 53 · see citing works
Self-citationThe GATOR2 Component Wdr24 Regulates TORC1 Activity and Lysosome Function
Cai, W., Wei, Y., Jarnik, M., Reich, J., & Lilly, M. A. (2016) · PLOS Genetics · doi:10.1371/journal.pgen.1006036 · Cited by 61 · see citing works
Somatic mutation: The hidden genetics of brain malformations and focal epilepsies
Ye, Z., McQuillan, L., Poduri, A., Green, T. E., Matsumoto, N., Mefford, H. C., Scheffer, I. E., Berkovic, S. F., & Hildebrand, M. S. (2019) · Epilepsy Research · doi:10.1016/j.eplepsyres.2019.106161 · Cited by 61 · see citing works
Epilepsy with auditory features
Pippucci, T., Licchetta, L., Baldassari, S., Palombo, F., Menghi, V., D’Aurizio, R., Leta, C., Stipa, C., Boero, G., d’Orsi, G., et al. (2015) · Neurology Genetics · doi:10.1212/nxg.0000000000000005 · Cited by 60 · see citing works
DEPDC5-related epilepsy: A comprehensive review.
Samanta, D. (2022) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2022.108678 · Cited by 52 · see citing works
Guerrini, R., Marini, C., & Mantegazza, M. (2014) · Neurotherapeutics · doi:10.1007/s13311-014-0267-0 · Cited by 57 · see citing works
Nguyen, D. K., Rouleau, I., Sénéchal, G., Ansaldo, A. I., Gravel, M., Benfenati, F., & Cossette, P. (2015) · Epilepsia · doi:10.1111/epi.13042 · Cited by 56 · see citing works
From next-generation sequencing to targeted treatment of non-acquired epilepsies
Møller, R. S., Hammer, T. B., Rubboli, G., Lemke, J. R., & Johannesen, K. M. (2019) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2019.1573144 · Cited by 54 · see citing works
Global characterization of copy number variants in epilepsy patients from whole genome sequencing
Monlong, J., Girard, S., Meloche, C., Cadieux‐Dion, M., Andrade, D. M., Lafrenière, R. G., Gravel, M., Spiegelman, D., Dionne‐Laporte, A., Boelman, C. G., et al. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007285 · Cited by 54 · see citing works
Depdc5 knockdown causes mTOR‐dependent motor hyperactivity in zebrafish
de Calbiac, H., Dăbâcan, A., Marsan, E., Tostivint, H., Devienne, G., Ishida, S., Leguern, E., Baulac, S., Muresan, R., Kabashi, E., et al. (2018) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.542 · Cited by 50 · see citing works
Self-citationNicotinic acetylcholine receptors and epilepsy
Becchetti, A., Grandi, L. C., Cerina, M., & Amadeo, A. (2023) · Pharmacological Research · doi:10.1016/j.phrs.2023.106698 · Cited by 53 · see citing works
Yuskaitis, C. J., Rossitto, L.-A. M., Gurnani, S., Bainbridge, E. A., Poduri, A., & Şahin, M. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz123 · Cited by 45 · see citing works
E3 ligase MKRN3 is a tumor suppressor regulating PABPC1 ubiquitination in non–small cell lung cancer
Li, K., Zheng, X., Tang, H., Zang, Y., Zeng, C., Liu, X., Shen, Y., Pang, Y., Wang, S., Xie, F., et al. (2021) · The Journal of Experimental Medicine · doi:10.1084/jem.20210151 · Cited by 51 · see citing works
DEPDC5 as a potential therapeutic target for epilepsy
Myers, K., & Scheffer, I. (2017) · Expert opinion on therapeutic targets · doi:10.1080/14728222.2017.1316715 · Cited by 40 · see citing works
Obtaining genetic testing in pediatric epilepsy
Ream, M. A., & Patel, A. D. (2015) · Epilepsia · doi:10.1111/epi.13122 · Cited by 47 · see citing works
Investigation of GRIN2A in common epilepsy phenotypes
Lal, D., Steinbrücker, S., Schubert, J., Sander, T., Becker, F., Weber, Y. G., Lerche, H., Thiele, H., Krause, R., Lehesjoki, A., et al. (2015) · Epilepsy Research · doi:10.1016/j.eplepsyres.2015.05.010 · Cited by 46 · see citing works
DEPDC 5 mutations are not a frequent cause of familial temporal lobe epilepsy
Striano, P., Serioli, E., Santulli, L., Manna, I., Labate, A., Dazzo, E., Pasini, E., Gambardella, A., Michelucci, R., Striano, S., et al. (2015) · Epilepsia · doi:10.1111/epi.13094 · Cited by 46 · see citing works
Mutational inactivation of mTORC1 repressor gene DEPDC5 in human gastrointestinal stromal tumors
Pang, Y., Xie, F., Cao, H., Wang, C.-M., Zhu, M.-J., Liu, X., Lu, X., Huang, T., Shen, Y.-Y., Li, K., et al. (2019) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.1914542116 · Cited by 36 · see citing works
Lee, W. S., Baldassari, S., Stephenson, S. E. M., Lockhart, P. J., Baulac, S., & Leventer, R. J. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031344 · Cited by 45 · see citing works
Self-citationKlofas, L. K., Short, B. P., Zhou, C.-W., & Carson, R. P. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa068 · Cited by 42 · see citing works
A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French‐Canadian population
Martin, C., Meloche, C., Rioux, M., Nguyen, D., Carmant, L., Andermann, E., Gravel, M., & Cossette, P. (2014) · Clinical Genetics · doi:10.1111/cge.12311 · Cited by 46 · see citing works
DEPDC5 mutations in familial and sporadic focal epilepsy
Tsai, M.-H., Chan, C.-K., Chang, Y., Yu, Y.-T., Chuang, S., Fan, W., Li, S.-C., Fu, T.-Y., Chang, W.-N., Liou, C., et al. (2017) · Clinical Genetics · doi:10.1111/cge.12992 · Cited by 39 · see citing works
Burger, B., Rose, S., Bennuri, S. C., Gill, P. S., Tippett, M., Delhey, L., Melnyk, S., & Frye, R. (2017) · Frontiers in Pediatrics · doi:10.3389/fped.2017.00219 · Cited by 32 · see citing works
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function
Conti, V., Aracri, P., Chiti, L., Brusco, S., Mari, F., Marini, C., Albanese, M., Marchi, A., Liguori, C., Placidi, F., et al. (2015) · Neurology · doi:10.1212/wnl.0000000000001471 · Cited by 39 · see citing works
Progress in unraveling the genetic etiology of rolandic epilepsy
Xiong, W., & Zhou, D. (2017) · Seizure · doi:10.1016/j.seizure.2017.02.012 · Cited by 39 · see citing works
Acute knockdown of Depdc5 leads to synaptic defects in mTOR-related epileptogenesis.
Fusco, A. D., Cerullo, M., Marte, A., Michetti, C., Romei, A., Castroflorio, E., Baulac, S., & Benfenati, F. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104822 · Cited by 29 · see citing works
Self-citationLiu, L., Chen, Z.-R., Xu, H., Liu, D.-T., Mao, Y., Liu, H.-K., Liu, X.-R., Zhou, P., Lin, S.-M., Li, B., et al. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.00821 · Cited by 32 · see citing works
MTLE with hippocampal sclerosis in adult as a syndrome
Baulac, M. (2015) · Revue Neurologique · doi:10.1016/j.neurol.2015.02.004 · Cited by 38 · see citing works
Self-citationHuman temporal lobe epilepsy analyses by tissue proteomics
Mériaux, C., Franck, J., Park, D. B., Quanico, J. P., Kim, Y. H., Chung, C. K., Park, Y. M., Steinbusch, H. W. M., Salzet, M., & Fournier, I. (2014) · Hippocampus · doi:10.1002/hipo.22246 · Cited by 37 · see citing works
Ropers, H., & Wienker, T. F. (2015) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2015.10.007 · Cited by 35 · see citing works
Cardiac Investigations in Sudden Unexpected Death in DEPDC5 ‐Related Epilepsy
Bacq, A., Roussel, D., Bonduelle, T., Zagaglia, S., Maletić, M. M., Ribierre, T., Adle-Biassette, H., Marchal, C., Jennesson, M., An, I., et al. (2021) · Annals of Neurology · doi:10.1002/ana.26256 · Cited by 27 · see citing works
Self-citationThe Genetics of the Epilepsies
Achkar, C. M. E., Olson, H. E., Poduri, A., & Pearl, P. L. (2015) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-015-0559-8 · Cited by 34 · see citing works
Riahi, Z., Bonnet, C., Zaïnine, R., Louha, M., Bouyacoub, Y., Laroussi, N., Chargui, M., Kéfi, R., Jonard, L., Dorboz, I., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0099797 · Cited by 33 · see citing works
Identification of Genes for Childhood Heritable Diseases
Boycott, K. M., Dyment, D. A., Sawyer, S. L., Vanstone, M. R., & Beaulieu, C. L. (2014) · Annual Review of Medicine · doi:10.1146/annurev-med-101712-122108 · Cited by 33 · see citing works
Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.
Baulac, S. (2014) · Progress in Brain Research · doi:10.1016/b978-0-444-63326-2.00007-7 · Cited by 35 · see citing works
Self-citationGenetic heterogeneity in familial nocturnal frontal lobe epilepsy.
Steinlein, O. (2014) · Progress in Brain Research · doi:10.1016/b978-0-444-63326-2.00001-6 · Cited by 27 · see citing works
Ying, Z., Wang, Z. I., Blümcke, I., Bulacio, J. C., Alexopoulos, A. V., Jehi, L. E., Bingaman, W. E., Gonzalez-Martinez, J. A., Kobow, K., Niestroj, L., et al. (2019) · Epileptic Disorders · doi:10.1684/epd.2019.1028 · Cited by 32 · see citing works
Nicotinic Receptors in Sleep-Related Hypermotor Epilepsy: Pathophysiology and Pharmacology
Becchetti, A., Grandi, L. C., Colombo, G., Meneghini, S., & Amadeo, A. (2020) · Brain Sciences · doi:10.3390/brainsci10120907 · Cited by 31 · see citing works
Can rodent models elucidate the pathomechanisms of genetic epilepsy?
Okada, M. (2021) · British Journal of Pharmacology · doi:10.1111/bph.15443 · Cited by 30 · see citing works
Vignatelli, L., Bisulli, F., Giovannini, G., Licchetta, L., Naldi, I., Mostacci, B., Rubboli, G., Provini, F., Tinuper, P., & Meletti, S. (2015) · SLEEP · doi:10.5665/sleep.4514 · Cited by 32 · see citing works
van Kranenburg, M., Hoogeveen-Westerveld, M., & Nellist, M. (2015) · Human Mutation · doi:10.1002/humu.22723 · Cited by 30 · see citing works
Novel GABRG2 mutations cause familial febrile seizures
Boillot, M., Morin‐Brureau, M., Picard, F., Weckhuysen, S., Lambrecq, V., Minetti, C., Striano, P., Zara, F., Iacomino, M., Ishida, S., et al. (2015) · Neurology Genetics · doi:10.1212/nxg.0000000000000035 · Cited by 31 · see citing works
Self-citationChokroverty, S., & Nobili, L. (2017) · Springer eBooks · doi:10.1007/978-1-4939-6578-6_44 · Cited by 30 · see citing works
Genetic models of focal epilepsies
Boillot, M., & Baulac, S. (2015) · Journal of Neuroscience Methods · doi:10.1016/j.jneumeth.2015.06.003 · Cited by 30 · see citing works
Self-citationVilla, C., Colombo, G., Meneghini, S., Gotti, C., Moretti, M., Ferini‐Strambi, L., Chisci, E., Giovannoni, R., Becchetti, A., & Combi, R. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2019.00017 · Cited by 28 · see citing works
DEPDC5 protects CD8+ T cells from ferroptosis by limiting mTORC1-mediated purine catabolism
Li, S., Ouyang, X.-X., Sun, H.-X., Jin, J.-S., Chen, Y., Li, L., Wang, Q.-J., He, Y.-Z., Wang, J.-W., Chen, T.-X., et al. (2024) · Cell Discovery · doi:10.1038/s41421-024-00682-z · Cited by 29 · see citing works
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy
Hildebrand, M. S., Tankard, R. M., Gazina, E. V., Damiano, J. A., Lawrence, K. M., Dahl, H. M., Regan, B. M., Shearer, A. E., Smith, R. J., Marini, C., et al. (2015) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.224 · Cited by 28 · see citing works
CELSR1 variants are associated with partial epilepsy of childhood
Chen, Z., Luo, S., Liu, Z., Deng, Y., He, S., Liu, X., Yi, Y., Wang, J., Gao, L., Li, B.-M., et al. (2022) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32916 · Cited by 27 · see citing works
Familial mesial temporal lobe epilepsy and the borderland of déjà vu
Perucca, P., Crompton, D. E., Bellows, S. T., McIntosh, A. M., Kalinčík, T., Newton, M. R., Vajda, F. J. E., Scheffer, I. E., Kwan, P., O'Brien, T. J., et al. (2017) · Annals of Neurology · doi:10.1002/ana.24984 · Cited by 27 · see citing works
mTOR Inhibitors in Children: Current Indications and Future Directions in Neurology
Jeong, A., & Wong, M. (2016) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-016-0708-8 · Cited by 26 · see citing works
Jiang, T., Gao, J., Jiang, L., Lu, C., Zhao, C., Su, X., Shen, Y., Gu, W., Kong, X., Yang, Y., et al. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.699574 · Cited by 26 · see citing works
Lessons learned from gene identification studies in Mendelian epilepsy disorders
Hardies, K., Weckhuysen, S., Jonghe, P. D., & Suls, A. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.251 · Cited by 26 · see citing works
Sleep Related Epilepsy and Pharmacotherapy: An Insight
Kumar, J., Solaiman, A., Mahakkanukrauh, P., Mohamed, R., & Das, S. (2018) · Frontiers in Pharmacology · doi:10.3389/fphar.2018.01088 · Cited by 23 · see citing works
Clonally related uterine leiomyomas are common and display branched tumor evolution.
Mehine, M., Heinonen, H.-R., Sarvilinna, N., Pitkänen, E., Mäkinen, N., Katainen, R., Tuupanen, S., Bützow, R., Sjöberg, J., & Aaltonen, L. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv177 · Cited by 25 · see citing works
- Authors
- Ishida, S., Picard, F., Rudolf, G., Noé, E., Achaz, G., Thomas, P., Genton, P., Mundwiller, E., Wolff, M., Marescaux, C., Miles, R., Baulac, M., Hirsch, E., Leguern, E., & Baulac, S.
- Affiliations
- Inserm (FR)
- University Hospital of Geneva (CH)
- Hôpitaux Universitaires de Strasbourg (FR)
- Centre National de la Recherche Scientifique (FR)
- Hôpital Pasteur (FR)
- Institut de Neurobiologie de la Méditerranée (FR)
- Pitié-Salpêtrière Hospital (FR)
- University Children's Hospital Tübingen (DE)
- Corresponding author
- Baulac, Stéphanie
- ORCID
- Venue
- Nature Genetics
- Published
- 2013-03-31
- Volume
- 45
- Issue
- 5
- Pages
- 552-555
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC5010101
- OpenAlex
- W1964320147
- Cited by
- 269
- References
- 19
- Citations by year
- 2026: 11 · 2025: 14 · 2024: 19 · 2023: 14 · 2022: 18 · 2021: 22 · 2020: 17 · 2019: 23 · 2018: 15 · 2017: 23 · 2016: 22 · 2015: 33 · 2014: 29 · 2013: 7 · 2012: 1
- FWCI
- 21.47
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Archive ouverte UNIGE (University of Geneva) (publishedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- Funders
- Agence Nationale de la Recherche (ANR-11-INBS-0011)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Health Sciences › Medicine › Physiology › Tuberous Sclerosis Complex Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- DEPDC5, focal epilepsy, autosomal dominant epilepsy, frameshift mutation, nonsense mutation, missense mutations, loss-of-function mutations, DEP domain, nocturnal frontal lobe epilepsy, genetic linkage, exome sequencing, pyrosequencing, membrane trafficking, G protein signaling
- MeSH terms
- Adolescent, Adult, Amino Acid Sequence, Brain, Child, Epilepsies, Partial, Female, Genotype, Humans, Genetic Linkage, Male, Middle Aged, Molecular Sequence Data, Mutation, Pedigree, Cohort Studies, Genome, Human, Case-Control Studies, Sequence Homology, Amino Acid, Computational Biology, Genetic Predisposition to Disease, Guanine Nucleotide Exchange Factors, Young Adult, Exome
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