The DOI matches its Crossref record; 80 of the 80 references it cites were found in a registry or an index.
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Open accessAbstract
Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental plateauing or regression associated with frequent epileptiform activity. The cause of DEE remains unknown in the majority of cases. We performed whole-genome sequencing (WGS) in 197 individuals with unexplained DEE and pharmaco-resistant seizures and in their unaffected parents. We focused our attention on de novo mutations (DNMs) and identified candidate genes containing such variants. We sought to identify additional subjects with DNMs in these genes by performing targeted sequencing in another series of individuals with DEE and by mining various sequencing datasets. We also performed meta-analyses to document enrichment of DNMs in candidate genes by leveraging our WGS dataset with those of several DEE and ID series. By combining these strategies, we were able to provide a causal link between DEE and the following genes: NTRK2, GABRB2, CLTC, DHDDS, NUS1, RAB11A, GABBR2, and SNAP25. Overall, we established a molecular diagnosis in 63/197 (32%) individuals in our WGS series. The main cause of DEE in these individuals was de novo point mutations (53/63 solved cases), followed by inherited mutations (6/63 solved cases) and de novo CNVs (4/63 solved cases). De novo missense variants explained a larger proportion of individuals in our series than in other series that were primarily ascertained because of ID. Moreover, these DNMs were more frequently recurrent than those identified in ID series. These observations indicate that the genetic landscape of DEE might be different from that of ID without epilepsy.
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.
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?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“GOF variants cause DEEs with status epilepticus, alternating focal seizures, paroxysmal hemiplegia, neonatal jitteriness, ataxia and movement disorder 62, 63 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [63]
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.
Citations
Cites
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
Robinson, J. T., Thorvaldsdóttir, H., Winckler, W., Guttman, M., Lander, E. S., Getz, G., & Mesirov, J. P. (2011) · Nature Biotechnology · doi:10.1038/nbt.1754 · Cited by 15,390
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587
Scheffer, I. E., Berkovic, S., Capovilla, G., Connolly, M. B., French, J., Guilhoto, L., Hirsch, E., Jain, S., Mathern, G. W., Moshé, S. L., et al. (2017) · Epilepsia · doi:10.1111/epi.13709 · Cited by 5,054
Self-citationThe contribution of de novo coding mutations to autism spectrum disorder
Iossifov, I., O’Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Witherspoon, K. T., Vives, L., Patterson, K. E., et al. (2014) · Nature · doi:10.1038/nature13908 · Cited by 2,585
Rate of de novo mutations and the importance of father’s age to disease risk
Kong, A., Frigge, M. L., Masson, G., Besenbacher, S., Sulem, P., Magnusson, G., Gudjonsson, S. A., Sigurdsson, A., Jonasdottir, A., Jonasdottir, A., et al. (2012) · Nature · doi:10.1038/nature11396 · Cited by 2,134
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Firth, H. V., Richards, S. M., Bevan, A. P., Clayton, S., Corpas, M., Rajan, D., Vooren, S. V., Moreau, Y., Pettett, R. M., & Carter, N. P. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.03.010 · Cited by 1,990
Diagnostic exome sequencing in persons with severe intellectual disability
de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1206524 · Cited by 1,546
LUMPY: a probabilistic framework for structural variant discovery
Layer, R. M., Chiang, C., Quinlan, A. R., & Hall, I. M. (2014) · Genome biology · doi:10.1186/gb-2014-15-6-r84 · Cited by 1,544
GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Sobreira, N., Schiettecatte, F., Valle, D., & Hamosh, A. (2015) · Human Mutation · doi:10.1002/humu.22844 · Cited by 1,529
Flagged first, then by citations
Cited by
Sorted by citations
Items 401–444 of 444
Bonkowski, E. S., & Mefford, H. C. (2024) · Oxford University Press eBooks · doi:10.1093/med/9780197549469.003.0041
Self-citationGarcía‐Cazorla, À., & Artuch, R. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19041-4.00020-0
DHDDS-related epilepsy with hippocampal atrophy: a case report
Franco, Á. D. O., Morillos, M. B., Leite, M., Bianchin, M. M., & Torres, C. M. (2024) · Neurogenetics · doi:10.1007/s10048-024-00780-w
Shifting Focus: The “Other” GABAR
Kadam, S. D. (2024) · Epiliepsy currents/Epilepsy currents · doi:10.1177/15357597241303613
Distribution analysis of RAB11A and RAB11B, small GTP-binding proteins, in mice
Tsuneura, Y., Matsuki, T., Eda, S., Hamada, N., Harada, A., Nagata, K.-I., & Nakayama, A. (2025) · Molecular Biology Reports · doi:10.1007/s11033-025-10282-z
A review of epilepsy syndromes and epileptogenic mechanism affiliated with brain tumor related genes
Chan, C.-K., Lim, K. S., Chan, C.-Y., Kumar, T. S., Audrey, C., Narayanan, V., Fong, S., & Ng, C. C. (2025) · Gene · doi:10.1016/j.gene.2025.149531
Genetic study of the NUS1 gene variants in Han Chinese patients with Parkinson’s disease
Gao, C., Yuan, L., Zheng, W., Yang, Y. X., Song, Z. J., Guo, Y., & Deng, H. (2025) · Ageing and Neurodegenerative Diseases · doi:10.20517/and.2024.36
Cilio, M. R., Carapancea, E., & Sands, T. T. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-10944-7.00084-6
CCDC32 stabilizes clathrin-coated pits and drives their invagination
Yang, Z., Yang, C., Huang, Z., Xu, P., Li, Y., Han, L., Peng, L., Wei, X., Pak, J. E., Svitkina, T., et al. (2026) · eLife · doi:10.7554/elife.107039
Hua, R., Jiang, J., Wang, B., Zhu, Z., Wang, J., Wu, D., & Li, Y. (2025) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-025-02046-z
Effect of passive smoking on tooth development of children and some related salivary biomarkers
Dawood, H. N., Abo-Hamila, N. A. E., El‐Deeb, O. S., & El-Desouky, S. S. (2025) · Tanta Dental Journal · doi:10.4103/tdj.tdj_131_24
Autosomal allelic inactivation at loci with variable replication timing and dosage sensitivityPreprint
Heskett, M. B., Vouzas, A. E., Johnstone, B., Freese, K. P., Yates, P. A., Copenhaver, P. F., Spellman, P. T., Gilbert, D. M., & Thayer, M. J. (2026) · eLife · doi:10.7554/elife.109938
CCDC32 stabilizes clathrin-coated pits and drives their invaginationPreprint
Yang, Z., Yang, C., Huang, Z., Xu, P., Li, Y., Han, L., Peng, L., Wei, X., Pak, J. E., Svitkina, T., et al. (2025) · eLife · doi:10.7554/elife.107039.2
Mice with mono-allelic p.R37H Dhdds variant show aberrant glycosylation and interneuron deficitsPreprint
Silva, A. D., Fallah, M. S., Tadoum, S. B. T., Fazeli, M., Muffels, I. J. J., Wang, S., Grenier, F., Budhraja, R., Sturiale, L., Messina, A., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.08.15.670547
Self-citationCDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants
Paul, S. K., Panday, S. K., Boccuto, L., & Alexov, E. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26178399 · Cited by 1
Zhang, H., Zhang, J., Ma, X., Chen, Z., Jin, Y., Li, M., Dong, H., Gu, F., Zhang, Y., & Yang, Y. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2025.1636206
Riboldi, G. M., & Frucht, S. J. (2025) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2025.108063
Weißbach, S., Sys, S., Hewel, C., Todorov, H., Schweiger, S., Winter, J., Pfenninger, M., Torkamani, A., Evans, D., Burger, J., et al. (2021) · Figshare · doi:10.6084/m9.figshare.13612712
Sau, C., López-Rodríguez, S., Falip, M., Esteve-Garcia, A., Sala-Padró, J., Aguilera, C., Navarro-Romero, A., Lasa‐Aranzasti, A., Rodriguez‐Bel, L., & Hernández-Pérez, G. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2025.1665623
An Overview of Drug-Resistant Epilepsies Based on Advances in Genetics: A Cohort Study
Kılıç, B. A., Topçu, Y., Ayaz, A., Özpınar, E., Seyhan, S., Demir, A. G. Ö., Palaz, M., Turanlı, G., & Aydın, K. (2026) · Neurology India · doi:10.4103/neurol-india.neurol-india-d-24-00886
Huang, Y., McNamara, C., & McNamara, J. (2026) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2026.111152
Hommersom, M. P., Puvogel, S., Scheefhals, N., Carpentiero, E., Bouma, M. J., van Beusekom, E., Dillen, L., van de Warrenburg, B. P. C., Kasri, N. N., & van Bokhoven, H. (2026) · Stem Cell Reports · doi:10.1016/j.stemcr.2025.102783
Chen, C.-P. (2026) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/j.tjog.2025.11.008
Ortiz, S., Affronte, L., Bagliani, C., El‐Kamand, S., Kan, A. S. H., Kristoffersen, I. T., Dahl, R. S., Højte, A. F., Auvin, S., Bouman, A., et al. (2026) · Epilepsia · doi:10.1002/epi.70096
Self-citationAutosomal Allelic Inactivation: Variable Replication and Dosage SensitivityPreprint
Heskett, M. B., Vouzas, A. E., Johnstone, B., Freese, K. P., Yates, P. A., Copenhaver, P. F., Spellman, P. T., Gilbert, D. M., & Thayer, M. J. (2026) · eLife · doi:10.7554/elife.109938.1
Phenotypic diversity is caused by non-linear genetic interactions between two SNAREopathy genes
Kovačević, J., Houy, S., Pires, J., Kádková, A., Li, Z., Lammertse, H. C. A., Martins, J. S., Öttl, M., Wierda, K. D. B., Wortel, J., et al. (2026) · Molecular Psychiatry · doi:10.1038/s41380-026-03509-3
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneityPreprint
Harrison, A., Ganesan, S., Xie, H. M., Parthasarathy, S., McKee, J. L., Magielski, J. H., Thalwitzer, K. M., Lobo, R., Pendziwiat, M., van Baalen, A., et al. (2026) · medRxiv · doi:10.64898/2026.04.05.26350183
Self-citationRosenfeld, E. B., Kasatkin, N., Yu, B. L., Velinov, M. T., Brandt, J. S., & Ashkinadze, E. (2026) · Pregnancy · doi:10.1002/pmf2.70280
DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathies
Kayhan, G., Tany, R., Maroofian, R., Serdaroğlu, E., Kurumiya, E., Tran, D. P., Wakasugi-Masuho, H., Thomsen, M., Salayev, K., Kaiyrzhanov, R. B., et al. (2026) · Brain · doi:10.1093/brain/awag128
Case Report: Recurrent pathogenic mutation c.110G>A in DHDDS gene
Liu, C., Ye, Q., Li, J., Bu, S., Ge, C., Wang, X., Quan, M., & Wang, L. (2026) · Frontiers in Neuroscience · doi:10.3389/fnins.2026.1801725
Li, Q., Meng, L., Hong, S., Hu, Y., Li, X., Guo, Y., Jiang, L., & Xie, L. (2026) · Epilepsy Research · doi:10.1016/j.eplepsyres.2026.107842
Pathogenic mutations in clathrin heavy chain disrupt synapse architecture and learning in Drosophila
Das, J., Datta, M., Pippadpally, S., Jethani, B., Singh, S. B., Kshirsagar, A., Jena, A., Kumar, V., Majumdar, A., & Subramanyam, D. (2026) · iScience · doi:10.1016/j.isci.2026.116317
Li, N., Chen, Y., Li, G., Li, J., & Lin, W. (2026) · Therapeutic Advances in Neurological Disorders · doi:10.1177/17562864261464160
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC ‐Related Disorder
Charouf, D., Accogli, A., Hamdan, F. F., Nardecchia, F., Itai, T., Myers, K. A., Martin, C. S., & Srour, M. (2026) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.70245
Self-citationTrajkova, S., Cardaropoli, S., Dimartino, P., Pavinato, L., Rizzo, S., Giovenino, C., Pullano, V., Pintus, F., Rzasa, J., Kerkhof, J., et al. (2026) · Human Mutation · doi:10.1155/humu/7201395
Inborn Errors of Metabolism and Other Genetic Disorders with Features of Neonatal Encephalopathy
Enns, G. M. (2026) · Cambridge University Press eBooks · doi:10.1017/9781009418034.036
Yang, X., Pan, R., Yu, F., Wu, H., Shah, N. M., & Li, H. (2026) · Genes · doi:10.3390/genes17080928
The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity
Seyedtaghia, M. R., Babanzadeh, J., Scala, M., Perilli, L., & Striano, P. (2026) · Epilepsia Open · doi:10.1002/epi4.70310
Uzay, B., Ma, Z., Uzay, İ. A., Alten, B., Monteggia, L. M., & Kavalali, E. T. (2026) · Neuropsychopharmacology · doi:10.1038/s41386-026-02535-7 · Cited by 1
Yoon, D. H., Seol, C. A., Rhim, J. W., & Han, J. Y. (2026) · Genes · doi:10.3390/genes17091078
Li, J., Fan, W., Liu, N., Zhang, S., Wang, P., Gu, C., & Shu, J. (2026) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.70305
Zhou, J., Numoto, S., Takeo, T., Azuma, Y., Kurahashi, H., Fukasawa, T., Kubota, T., & Okumura, A. (2026) · Brain and Development Case Reports · doi:10.1016/j.bdcasr.2026.100164
Blue, R. E., Black, A. J., Cote, J. L., Addish, S. A., Kavalipati, A., Lyons, S. P., Ezzell, J. A., Bremmer, S. C., Dominguez, D., & Giudice, J. (2026) · iScience · doi:10.1016/j.isci.2026.117799
Ren, G., Lv, R., Wang, S., Yan, J., Sun, Y., Cui, T., Shi, W., 任洁钏, Yang, C., Chen, C., et al. (2026) · Seizure · doi:10.1016/j.seizure.2026.10.007
Metadata
- Authors
- Hamdan, F. F., Myers, C. T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A. D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., Dobrzeniecka, S., Meloche, C., Retterer, K., Cho, M. T., Rosenfeld, J. A., Bi, W., Massicotte, C., Miguet, M., Brunga, L., Regan, B. M., Mo, K., Tam, C., Schneider, A., Hollingsworth, G., FitzPatrick, D. R., Donaldson, A., Canham, N., Blair, E., Kerr, B., Fry, A. E., Thomas, R. H., Shelagh, J., Hurst, J. A., Brittain, H., Blyth, M., Lebel, R. R., Gerkes, E. H., Davis-Keppen, L., Stein, Q., Chung, W. K., Dorison, S. J., Benke, P. J., Fassi, E., Corsten-Janssen, N., Kamsteeg, E.-J., Mau-Them, F. T., Bruel, A.-L., Verloes, A., Õunap, K., Wojcik, M. H., Albert, D. V. F., Venkateswaran, S., Ware, T., Jones, D., Liu, Y.-C., Mohammad, S. S., Bizargity, P., Bacino, C. A., Leuzzi, V., Martinelli, S., Dallapiccola, B., Tartaglia, M., Blumkin, L., Wierenga, K. J., Purcarin, G., O’Byrne, J. J., Stockler, S., Lehman, A., Keren, B., Nougues, M.-C., Mignot, C., Auvin, S., Nava, C., Hiatt, S. M., Bebin, M., Shao, Y., Scaglia, F., Lalani, S. R., Frye, R. E., Jarjour, I. T., Jacques, S., Boucher, R.-M., Riou, E., Srour, M., Carmant, L., Lortie, A., Major, P., Diadori, P., Dubeau, F., D’Anjou, G., Bourque, G., Berkovic, S. F., Sadleir, L. G., Campeau, P. M., Kibar, Z., Lafrenière, R. G., Girard, S. L., Mercimek-Mahmutoglu, S., Boelman, C., Rouleau, G. A., Scheffer, I. E., Mefford, H. C., Andrade, D. M., Rossignol, E., Minassian, B. A., & Michaud, J. L.
- Affiliations
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- University of Washington (US)
- Centre Hospitalier de l’Université de Montréal (CA)
- Montreal Neurological Institute and Hospital (CA)
- McGill University and Génome Québec Innovation Centre (CA)
- Baylor College of Medicine (US)
- University of Toronto (CA)
- The University of Melbourne (AU)
- Western General Hospital (GB)
- University Hospitals Bristol NHS Foundation Trust (GB)
- London North West Healthcare NHS Trust (GB)
- Nuffield Orthopaedic Centre (GB)
- Manchester Academic Health Science Centre (GB)
- University Hospital of Wales (GB)
- Cardiff University (GB)
- Queen Elizabeth University Hospital (GB)
- Great Ormond Street Hospital (GB)
- Chapel Allerton Hospital (GB)
- SUNY Upstate Medical University (US)
- University Medical Center Groningen (NL)
- Augustana University (US)
- Columbia University Irving Medical Center (US)
- Baptist Hospital of Miami (US)
- Joe DiMaggio Children's Hospital (US)
- Washington University in St. Louis (US)
- Radboud University Medical Center (NL)
- Inserm (FR)
- Tartu University Hospital (EE)
- Broad Institute (US)
- Nationwide Children's Hospital (US)
- Children's Hospital of Eastern Ontario (CA)
- University of Tasmania (AU)
- The University of Sydney (AU)
- Sapienza University of Rome (IT)
- Istituto Superiore di Sanità (IT)
- Bambino Gesù Children's Hospital (IT)
- Wolfson Medical Center (IL)
- University of Oklahoma Health Sciences Center (US)
- University of British Columbia (CA)
- Centre National de la Recherche Scientifique (FR)
- HudsonAlpha Institute for Biotechnology (US)
- University of Alabama at Birmingham (US)
- Arkansas Children's Research Institute (US)
- McGill University (CA)
- Université de Montréal (CA)
- University of Otago (NZ)
- Université du Québec à Chicoutimi (CA)
- BC Children's Hospital (CA)
- Royal Children's Hospital (AU)
- Corresponding author
- Minassian, Berge A.
- Michaud, Jacques L.
- ORCID
- Hamdan, Fadi F.
- Myers, Candace T.
- Spiegelman, Dan
- Monlong, Jean
- Retterer, Kyle
- Cho, Megan T.
- Rosenfeld, Jill A.
- Bi, Weimin
- Brunga, Ledia
- Regan, Brigid M.
- Schneider, Amy
- FitzPatrick, David R.
- Donaldson, Alan
- Kerr, Bronwyn
- Fry, Andrew E.
- Thomas, Rhys H.
- Brittain, Helen
- Blyth, Moira
- Stein, Quinn
- Chung, Wendy K.
- Fassi, Emily
- Kamsteeg, Erik-Jan
- Bruel, Ange-Line
- Õunap, Katrin
- Wojcik, Monica H.
- Albert, Dara V.F.
- Ware, Tyson
- Jones, Dean
- Liu, Yu-Chi
- Mohammad, Shekeeb S.
- Bacino, Carlos A.
- Leuzzi, Vincenzo
- Martinelli, Simone
- Dallapiccola, Bruno
- Tartaglia, Marco
- Blumkin, Lubov
- Wierenga, Klaas J.
- O’Byrne, James J.
- Keren, Boris
- Mignot, Cyril
- Auvin, Stéphane
- Nava, Caroline
- Hiatt, Susan M.
- Bebin, Martina
- Scaglia, Fernando
- Lalani, Seema R.
- Frye, Richard E.
- Jarjour, Imad T.
- Srour, Myriam
- Major, Philippe
- Dubeau, François
- Bourque, Guillaume
- Berkovic, Samuel F.
- Sadleir, Lynette G.
- Campeau, Philippe M.
- Kibar, Zoha
- Girard, Simon L.
- Boelman, Cyrus
- Rouleau, Guy A.
- Scheffer, Ingrid E.
- Mefford, Heather C.
- Andrade, Danielle M.
- Rossignol, Elsa
- Minassian, Berge A.
- Michaud, Jacques L.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2017-11
- Volume
- 101
- Issue
- 5
- Pages
- 664-685
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC5673604
- OpenAlex
- W2766662494
- Semantic Scholar
- 24d60907423b9737df7141861443c8adb2f165a5
- Cited by
- 445
- References
- 79
- Citations by year
- 2026: 31 · 2025: 48 · 2024: 52 · 2023: 48 · 2022: 51 · 2021: 61 · 2020: 63 · 2019: 51 · 2018: 39
- FWCI
- 6.35
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion, other-oa)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- eCite Digital Repository (University of Tasmania) (submittedVersion)
- UTAS Research Repository (submittedVersion)
- HAL (submittedVersion)
- Figshare (submittedVersion)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion, other-oa)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, cc-by-nc-nd)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion, other-oa)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- Genome Canada
- Génome Québec
- Jeanne and Jean-Louis Lévesque Foundation
- Michael Bahen Chair in Epilepsy Research
- the Ontario Brain Institute
- the McLaughlin Foundation
- the University of Toronto
- the National Institute of Neurological Disorders and Stroke (RO1 NS069605)
- University of Toronto McLaughlin Accelerator Grant in Genomic Medicine (MC-2013-08))
- Topics
- Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- developmental and epileptic encephalopathy, de novo mutations, intellectual disability, epilepsy, molecular diagnosis, NTRK2, GABRB2, clathrin heavy chain, NUS1, Rab11a, GABBR2, SNAP-25, missense mutations, copy number variation
- MeSH terms
- Brain Diseases, Child, Child, Preschool, Epilepsy, Female, Humans, Male, Intellectual Disability, Mutation, Recurrence, Seizures, Genome, Human, Genome-Wide Association Study
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
