High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
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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.
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GOF variants in CACNA1A cause DEEs with status epilepticus, alternating focal seizures, paroxysmal hemiplegia, neonatal jitteriness, ataxia and movement disorder.
“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]
The Results table lists two CACNA1A missense mutations among de novo mutations in genes established as causes of DEE and/or intellectual disability. Our copy does not identify those variants as gain-of-function or link CACNA1A to the specific symptoms listed; the passages describing status epilepticus, jitteriness, and movement disorders concern other genes. (LLM, conf=0.82)
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Self-citation
- 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 › Psychiatry and Mental health › 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
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