Rare copy number variants are an important cause of epileptic encephalopathies
Open accessAbstract
Objective: Rare copy number variants (CNVs)—deletions and duplications—have recently been established as important risk factors for both generalized and focal epilepsies. A systematic assessment of the role of CNVs in epileptic encephalopathies, the most devastating and often etiologically obscure group of epilepsies, has not been performed. Methods: We evaluated 315 patients with epileptic encephalopathies characterized by epilepsy and progressive cognitive impairment for rare CNVs using a high‐density, exon‐focused, whole‐genome oligonucleotide array. Results: We found that 25 of 315 (7.9%) of our patients carried rare CNVs that may contribute to their phenotype, with at least one‐half being clearly or likely pathogenic. We identified 2 patients with overlapping deletions at 7q21 and 2 patients with identical duplications of 16p11.2. In our cohort, large deletions were enriched in affected individuals compared to controls, and 4 patients harbored 2 rare CNVs. We screened 2 novel candidate genes found within the rare CNVs in our cohort but found no mutations in our patients with epileptic encephalopathies. We highlight several additional novel candidate genes located in CNV regions. Interpretation: Our data highlight the significance of rare CNVs in the epileptic encephalopathies, and we suggest that CNV analysis should be considered in the genetic evaluation of these patients. Our findings also highlight novel candidate genes for further study. ANN NEUROL 2011;70:974–985
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
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.
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?
Contributory pathogenic CNVs occur in another 4%, in whom the CNV contributes to, but is not wholly causative of, the underlying aetiology.
“Contributory pathogenic CNVs occur in another 4%, in whom the CNV contributes to, but is not wholly causative of, the underlying aetiology 172 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [172]
The Results report that 13 of 315 patients (4.1%) had clearly or likely pathogenic CNVs. Another 12 patients had rare CNVs of unclear clinical significance—not an additional 4% classified as contributory pathogenic. The Discussion suggests that some inherited CNVs may contribute to a phenotype alongside other factors, but does not establish that this applies to the additional 12 patients. (LLM, conf=0.88)
Experimental — accuracy not yet measuredRoutine genetic testing often begins with a chromosomal microarray as causative copy number variants (CNVs) are identified in at least 4% of patients with DEEs.
“Routine genetic testing often begins with a chromosomal microarray as causative copy number variants (CNVs) are identified in at least 4% of patients with DEEs 172 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [172]
The Discussion reports clearly pathogenic CNVs in 4.1% of 315 patients with epileptic encephalopathies and suggests considering array CGH in their genetic evaluation. It does not establish that routine genetic testing often begins with a chromosomal microarray. (LLM, conf=0.88)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Shrestha, S., & Offer, S. M. (2016) · Medical Epigenetics · doi:10.1159/000444713 · Cited by 8,949 · see citing works
Berg, A. T., Berkovic, S. F., Brodie, M. J., Buchhalter, J., Cross, J. H., Van Emde Boas, W., Engel, J., French, J., Glauser, T. A., Mathern, G. W., et al. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2010.02522.x · Cited by 4,363 · see citing works
Self-citationProposal for Revised Clinical and Electroencephalographic Classification of Epileptic Seizures
(1981) · Epilepsia · doi:10.1111/j.1528-1157.1981.tb06159.x · Cited by 3,433 · see citing works
Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882 · see citing works
Self-citationLarge recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745 · see citing works
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666 · see citing works
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475 · see citing works
Recent Segmental Duplications in the Human Genome
Bailey, J. A., Gu, Z., Clark, R. A., Reinert, K., Samonte, R. V., Schwartz, S., Adams, M. D., Myers, E. W., Li, P. W., & Eichler, E. E. (2002) · Science · doi:10.1126/science.1072047 · Cited by 1,355 · see citing works
Self-citationMutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures
Wallace, R. H., Marini, C., Petrou, S., Harkin, L. A., Bowser, D. N., Panchal, R. G., Williams, D. A., Sutherland, G. R., Mulley, J. C., Scheffer, I. E., et al. (2001) · Nature Genetics · doi:10.1038/ng0501-49 · Cited by 780 · see citing works
Self-citationFirst genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene
Baulac, S., Huberfeld, G., Gourfinkel‐An, I., Mitropoulou, G., Beranger, A., Prud’homme, J.-F., Baulac, M., Brice, A., Bruzzone, R., & Leguern, É. (2001) · Nature Genetics · doi:10.1038/ng0501-46 · Cited by 765 · see citing works
Microduplications of 16p11.2 are associated with schizophrenia
Wellcome Trust Case Control Consortium, McCarthy, S. E., Makarov, V., Kirov, G., Addington, A. M., McClellan, J., Yoon, S., Perkins, D. O., Dickel, D. E., Kusenda, M., et al. (2009) · Nature Genetics · doi:10.1038/ng.474 · Cited by 711 · see citing works
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.534 · Cited by 667 · see citing works
Self-citationMutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
Cossette, P., Liu, L., Brisebois, K., Dong, H., Lortie, A., Vanasse, M., Saint-Hilaire, J. M., Carmant, L., Verner, A., Lu, W.-Y., et al. (2002) · Nature Genetics · doi:10.1038/ng885 · Cited by 654 · see citing works
Association Between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Sæmundsen, E., Stefánsson, H., Ferreira, M. A. R., Green, T. J., et al. (2008) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000316305.61461.6f · Cited by 647 · see citing works
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
Strauss, K. A., Puffenberger, E. G., Huentelman, M. J., Gottlieb, S., Dobrin, S. E., Parod, J. M., Stephan, D. A., & Morton, D. H. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa052773 · Cited by 630 · 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
Large, rare chromosomal deletions associated with severe early-onset obesity
Bochukova, E. G., Huang, N., Keogh, J., Henning, E., Purmann, C., Blaszczyk, K., Saeed, S., Hamilton-Shield, J., Clayton-Smith, J., O’Rahilly, S., et al. (2010) · Nature · doi:10.1038/nature08689 · Cited by 613 · see citing works
Population analysis of large copy number variants and hotspots of human genetic disease
Itsara, A., Cooper, G. M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R. M., Myers, R. M., Ridker, P. M., Chasman, D. I., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.12.014 · Cited by 591 · see citing works
Self-citationA recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Sharp, A. J., Mefford, H. C., Li, K., Baker, C., Skinner, C., Stevenson, R. E., Schroer, R. J., Novara, F., De Gregori, M., Ciccone, R., et al. (2008) · Nature Genetics · doi:10.1038/ng.93 · Cited by 582 · see citing works
Self-citationShinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.073015 · Cited by 580 · see citing works
Proposal for Classification of Epilepsies and Epileptic Syndromes
(1985) · Epilepsia · doi:10.1111/j.1528-1157.1985.tb05417.x · Cited by 573 · see citing works
Saitsu, H., Kato, M., Mizuguchi, T., Hamada, K., Osaka, H., Tohyama, J., Uruno, K., Kumada, S., Nishiyama, K., Nishimura, A., et al. (2008) · Nature Genetics · doi:10.1038/ng.150 · Cited by 554 · see citing works
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 · see citing works
Self-citationMefford, H. C., Muhle, H., Ostertag, P., von Spiczak, S., Buysse, K., Baker, C., Franke, A., Malafosse, A., Genton, P., Thomas, P., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000962 · Cited by 474 · see citing works
Self-citationRecurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
de Kovel, C. G. F., Trucks, H., Helbig, I., Mefford, H. C., Baker, C., Leu, C., Kluck, C., Muhle, H., von Spiczak, S., Ostertag, P., et al. (2010) · Brain · doi:10.1093/brain/awp262 · Cited by 445 · see citing works
Self-citationMiller, D. T., Shen, Y., Weiss, L. A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G. F., Dickinson, H., Gentile, J., Harris, D. J., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.059907 · Cited by 427 · see citing works
Shaikh, T. H., Gai, X., Perin, J. C., Glessner, J., Xie, H. M., Murphy, K., O'Hara, R., Casalunovo, T., Conlin, L. K., D’Arcy, M. E., et al. (2009) · Genome Research · doi:10.1101/gr.083501.108 · Cited by 385 · see citing works
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
Jen, J. C., Wan, J., Palos, T. P., Howard, B. D., & Baloh, R. W. (2005) · Neurology · doi:10.1212/01.wnl.0000172638.58172.5a · Cited by 368 · see citing works
van Bon, B. W. M., Mefford, H. C., Menten, B., Koolen, D. A., Sharp, A. J., Nillesen, W. M., Innis, J. W., de Ravel, T. J. L., Mercer, C. L., Fichera, M., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.063412 · Cited by 356 · see citing works
Self-citationHannes, F., Sharp, A. J., Mefford, H. C., de Ravel, T. J. L., Ruivenkamp, C. A. L., Breuning, M. H., Fryns, J., Devriendt, K., Buggenhout, G. V., Vogels, A., et al. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2007.055202 · Cited by 344 · see citing works
Self-citationDisruption of LGI1–linked synaptic complex causes abnormal synaptic transmission and epilepsy
Fukata, Y., Lovero, K. L., Iwanaga, T., Watanabe, A., Yokoi, N., Tabuchi, K., Shigemoto, R., Nicoll, R. A., & Fukata, M. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0914537107 · Cited by 341 · see citing works
Ullmann, R., TURNER, G. M., Kirchhoff, M., Chen, W., Tonge, B. J., Rosenberg, C., Field, M., Vianna‐Morgante, A. M., Christie, L., Krepischi, A. C. V., et al. (2007) · Human Mutation · doi:10.1002/humu.20546 · Cited by 287 · see citing works
Phenotypic variability and genetic susceptibility to genomic disorders
Girirajan, S., & Eichler, E. E. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq366 · Cited by 271 · see citing works
Self-citationDibbens, 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 263 · see citing works
Self-citationCalcium Channel α2δ Subunits—Structure and Gabapentin Binding
Marais, E., Klugbauer, N., & Hofmann, F. B. (2001) · Molecular Pharmacology · doi:10.1124/mol.59.5.1243 · Cited by 263 · see citing works
Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes
Heinzen, E. L., Radtke, R. A., Urban, T. J., Cavalleri, G. L., Depondt, C., Need, A. C., Walley, N. M., Nicoletti, P., Ge, D., Catarino, C. B., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.03.018 · Cited by 254 · see citing works
Bachmann‐Gagescu, R., Mefford, H. C., Cowan, C. A., Glew, G. M., Hing, A. V., Wallace, S. E., Bader, P. I., Hamati, A. I., Reitnauer, P. J., Smith, R., et al. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181ef4286 · Cited by 231 · see citing works
Self-citationDuplication hotspots, rare genomic disorders, and common disease
Mefford, H. C., & Eichler, E. E. (2009) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2009.04.003 · Cited by 202 · see citing works
Self-citationThe three stages of epilepsy in patients with CDKL5 mutations
Bahi‐Buisson, N., Kamińska, A., Boddaert, N., Rio, M., Afenjar, A., Gérard, M., Giuliano, F., Motte, J. E., Héron, D., Morel, M. A. N., et al. (2008) · Epilepsia · doi:10.1111/j.1528-1167.2007.01520.x · Cited by 193 · see citing works
Arrested maturation of excitatory synapses in autosomal dominant lateral temporal lobe epilepsy
Zhou, Y., Lee, S., Jin, Z., Wright, M., Smith, S. E. P., & Anderson, M. P. (2009) · Nature Medicine · doi:10.1038/nm.2019 · Cited by 186 · see citing works
A 15q13.3 microdeletion segregating with autism
Pagnamenta, A. T., Wing, K., Akha, E. S., Knight, S. J. L., Bölte, S., Schmötzer, G., Duketis, E., Poustka, F., Klauck, S. M., Poustka, A., et al. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.228 · Cited by 174 · see citing works
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
Scheffer, I. E., Zhang, Y.-H., Jansen, F. E., & Dibbens, L. M. (2009) · Brain and Development · doi:10.1016/j.braindev.2009.01.001 · Cited by 168 · see citing works
Self-citationDächsel, J. C., & Farrer, M. J. (2010) · Archives of Neurology · doi:10.1001/archneurol.2010.79 · Cited by 156 · see citing works
Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake
de Vries, B., Mamsa, H., Stam, A. H., Wan, J., Bakker, S. L. M., Vanmolkot, K. R. J., Haan, J., Terwindt, G. M., Boon, E. M. J., Howard, B. D., et al. (2009) · Archives of Neurology · doi:10.1001/archneurol.2008.535 · Cited by 145 · see citing works
Mefford, H. C., Cooper, G. M., Zerr, T., Smith, J. D., Baker, C., Shafer, N., Thorland, E. C., Skinner, C., Schwartz, C. E., Nickerson, D. A., et al. (2009) · Genome Research · doi:10.1101/gr.094987.109 · Cited by 132 · see citing works
Self-citationValidation of a Questionnaire for Clinical Seizure Diagnosis
Reutens, D. C., Howell, R. A., Gebert, K. E., & Berkovic, S. F. (1992) · Epilepsia · doi:10.1111/j.1528-1157.1992.tb01760.x · Cited by 127 · see citing works
Self-citationInfantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11
Marshall, C. R., Young, E. J., Pani, A. M., Freckmann, M., Lacassie, Y., Howald, C., Fitzgerald, K. K., Peippo, M. M., Morris, C. A., Shane-Carson, K., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.06.001 · Cited by 121 · see citing works
LGI1-associated epilepsy through altered ADAM23-dependent neuronal morphology
Owuor, K., Harel, N. Y., Englot, D. J., Hisama, F. M., Blumenfeld, H., & Strittmatter, S. M. (2009) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2009.09.008 · Cited by 101 · see citing works
Paciorkowski, A. R., Thio, L. L., Rosenfeld, J. A., Gajęcka, M., Gurnett, C. A., Kulkarni, S., Chung, W. K., Marsh, E. D., Gentile, M., Reggin, J. D., et al. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.121 · Cited by 83 · see citing works
A third synaptotagmin gene, Syt3, in the mouse.
Hilbush, B. S., & Morgan, J. P. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.17.8195 · Cited by 74 · see citing works
Duplication 16p11.2 in a child with infantile seizure disorder
Bedoyan, J. K., Kumar, R. A., Sudi, J., Silverstein, F. S., Ackley, T., Iyer, R. K., Christian, S. L., & Martin, D. M. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33415 · Cited by 58 · see citing works
Endris, V., Hackmann, K., Neuhann, T., Grasshoff, U., von Bonin, M., Haug, U., Hahn, G., Schallner, J., Schröck, E., Tinschert, S., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33692 · Cited by 53 · see citing works
Epilepsy caused by CDKL5 mutations
Castrén, M. L., Gaily, E. K., Tengström, C., Lähdetie, J., Archer, H. L., & Ala‐Mello, S. (2010) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2010.04.005 · Cited by 50 · see citing works
Mefford, H. C. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e3181c175d2 · Cited by 45 · see citing works
Self-citationCAP-1A is a novel linker that binds clathrin and the voltage-gated sodium channel Nav1.8
Liu, C.-J., Cummins, T., Tyrrell, L., et al. (2005) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2004.11.007 · Cited by 42 · see citing works
Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly
Komoike, Y., Fujii, K., Nishimura, A., Hiraki, Y., Hayashidani, M., Shimojima, K. Y., Nishizawa, T., Higashi, K., Yasukawa, K., Saitsu, H., et al. (2010) · genesis · doi:10.1002/dvg.20607 · Cited by 40 · see citing works
Calmodulin Suppresses Synaptotagmin-2 Transcription in Cortical Neurons*
Pang, Z., Xu, W., Cao, P., & Südhof, T. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.150151 · Cited by 31 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
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 · see citing works
Self-citationDe novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
Lee, J. H., Huynh, M., Silhavy, J. L., Kim, S., Dixon-Salazar, T., Heiberg, A., Scott, E., Bafna, V., Hill, K. J., Collazo, A., et al. (2012) · Nature Genetics · doi:10.1038/ng.2329 · Cited by 703 · see citing works
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
Guerrini, R., Conti, V., Mantegazza, M., Balestrini, S., Galanopoulou, A. S., & Benfenati, F. (2023) · Physiological Reviews · doi:10.1152/physrev.00063.2021 · Cited by 196 · see citing works
Genetic epilepsy with febrile seizures plus: Refining the spectrum
Zhang, Y.-H., Burgess, R., Malone, J. P., Glubb, G. C., Helbig, K. L., Vadlamudi, L., Kivity, S., Afawi, Z., Bleasel, A., Grattan-Smith, P., et al. (2017) · Neurology · doi:10.1212/wnl.0000000000004384 · Cited by 139 · 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
Self-citationEpi4K: Gene discovery in 4,000 genomes
The Epi4K Consortium (2012) · Epilepsia · doi:10.1111/j.1528-1167.2012.03511.x · Cited by 85 · see citing works
Stödberg, T., Tomson, T., Barbaro, M., Stranneheim, H., Anderlid, B., Carlsson, S., Åmark, P., & Wedell, A. (2020) · Epilepsia · doi:10.1111/epi.16701 · Cited by 46 · see citing works
Muir, A. M., Gardner, J. F., van Jaarsveld, R. H., de Lange, I. M., van der Smagt, J. J., Wilson, G. N., Dubbs, H., Goldberg, E. M., Zitano, L., Bupp, C., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-020-01076-8 · Cited by 35 · see citing works
Self-citationLaFlamme, C. W., Rastin, C., Sengupta, S., Pennington, H. E., Russ-Hall, S. J., Schneider, A. L., Bonkowski, E. S., Almanza Fuerte, E. P., Allan, T. J., Zalusky, M. P.-G., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-50159-6 · Cited by 31 · see citing works
Self-citationJähn, J. A., von Spiczak, S., Muhle, H., Obermeier, T., Franke, A., Mefford, H. C., Stephani, U., & Helbig, I. (2014) · Epilepsy Research · doi:10.1016/j.eplepsyres.2013.10.001 · Cited by 26 · see citing works
Self-citationViswanathan, S., Oliver, K. L., Regan, B. M., Schneider, A. L., Myers, C. T., Mehaffey, M. G., LaCroix, A. J., Antony, J., Webster, R., Cardamone, M., et al. (2024) · Annals of Neurology · doi:10.1002/ana.27041 · Cited by 23 · see citing works
Self-citation
- Authors
- Mefford, H. C., Yendle, S. C., Hsu, C., Cook, J., Geraghty, E., McMahon, J. M., Eeg‐Olofsson, O., Sadleir, L. G., Gill, D., Ben‐Zeev, B., Lerman‐Sagie, T., Mackay, M., Freeman, J. L., Andermann, E., Pelakanos, J. T., Andrews, I., Wallace, G., Eichler, E. E., Berkovic, S. F., & Scheffer, I. E.
- Affiliations
- University of Washington (US)
- The University of Melbourne (AU)
- Uppsala University (SE)
- University of Otago (NZ)
- The University of Sydney (AU)
- Tel Aviv University (IL)
- Royal Children's Hospital (AU)
- Montreal Neurological Institute and Hospital (CA)
- Sydney Children's Hospital (AU)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Mefford, Heather C.
- ORCID
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2011-12
- Volume
- 70
- Issue
- 6
- Pages
- 974-985
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- PMC
- PMC3245646
- OpenAlex
- W2134007691
- Cited by
- 247
- References
- 59
- Citations by year
- 2026: 8 · 2025: 7 · 2024: 12 · 2023: 12 · 2022: 14 · 2021: 17 · 2020: 15 · 2019: 20 · 2018: 18 · 2017: 17 · 2016: 14 · 2015: 26 · 2014: 27 · 2013: 22 · 2012: 17
- FWCI
- 13.17
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institute of Neurological Disorders and Stroke (R01NS069605)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- rare copy number variants, epileptic encephalopathy, 16p11.2 duplication, candidate genes, genetic etiology of epilepsy
- MeSH terms
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Chromosomes, Human, Pair 7, Cognition Disorders, Epilepsy, Exons, Female, Humans, Male, Calcium Channels, Protein Serine-Threonine Kinases, Gene Dosage, Genetic Predisposition to Disease, Oligonucleotide Array Sequence Analysis, Gene Expression Profiling, DNA Copy Number Variations
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
