CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow‐up for many of the previously reported cases, and further delineation of the spectrum of associated...
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| Published in | Epilepsia (Copenhagen) Vol. 62; no. 7; pp. e103 - e109 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Hoboken
Wiley Subscription Services, Inc
01.07.2021
Wiley |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0013-9580 1528-1167 1528-1167 |
| DOI | 10.1111/epi.16931 |
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| Abstract | CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow‐up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes. CSNK2B variants were identified by research or clinical exome sequencing, and investigators from different centers were connected via GeneMatcher. Most individuals had developmental delay and generalized epilepsy with onset in the first 2 years. However, we found a broad spectrum of phenotypic severity, ranging from early normal development with pharmacoresponsive seizures to profound intellectual disability with intractable epilepsy and recurrent refractory status epilepticus. These findings suggest that CSNK2B should be considered in the diagnostic evaluation of patients with a broad range of NDD with treatable or intractable seizures. |
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| AbstractList | CSNK2B
has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow‐up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in
CSNK2B
and refine the associated NDD and epilepsy phenotypes.
CSNK2B
variants were identified by research or clinical exome sequencing, and investigators from different centers were connected via GeneMatcher. Most individuals had developmental delay and generalized epilepsy with onset in the first 2 years. However, we found a broad spectrum of phenotypic severity, ranging from early normal development with pharmacoresponsive seizures to profound intellectual disability with intractable epilepsy and recurrent refractory status epilepticus. These findings suggest that
CSNK2B
should be considered in the diagnostic evaluation of patients with a broad range of NDD with treatable or intractable seizures. CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow‐up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes. CSNK2B variants were identified by research or clinical exome sequencing, and investigators from different centers were connected via GeneMatcher. Most individuals had developmental delay and generalized epilepsy with onset in the first 2 years. However, we found a broad spectrum of phenotypic severity, ranging from early normal development with pharmacoresponsive seizures to profound intellectual disability with intractable epilepsy and recurrent refractory status epilepticus. These findings suggest that CSNK2B should be considered in the diagnostic evaluation of patients with a broad range of NDD with treatable or intractable seizures. CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes. CSNK2B variants were identified by research or clinical exome sequencing, and investigators from different centers were connected via GeneMatcher. Most individuals had developmental delay and generalized epilepsy with onset in the first 2 years. However, we found a broad spectrum of phenotypic severity, ranging from early normal development with pharmacoresponsive seizures to profound intellectual disability with intractable epilepsy and recurrent refractory status epilepticus. These findings suggest that CSNK2B should be considered in the diagnostic evaluation of patients with a broad range of NDD with treatable or intractable seizures.CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes. CSNK2B variants were identified by research or clinical exome sequencing, and investigators from different centers were connected via GeneMatcher. Most individuals had developmental delay and generalized epilepsy with onset in the first 2 years. However, we found a broad spectrum of phenotypic severity, ranging from early normal development with pharmacoresponsive seizures to profound intellectual disability with intractable epilepsy and recurrent refractory status epilepticus. These findings suggest that CSNK2B should be considered in the diagnostic evaluation of patients with a broad range of NDD with treatable or intractable seizures. CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes . CSNK2B variants were identified by research or clinical exome sequencing, and investigators from different centers were connected via GeneMatcher. Most individuals had developmental delay and generalized epilepsy with onset in the first two years. However, we found a broad spectrum of phenotypic severity, ranging from early normal development with pharmacoresponsive seizures to profound intellectual disability with intractable epilepsy and recurrent refractory status epilepticus. These findings suggest that CSNK2B should be considered in the diagnostic evaluation of patients with a broad range of NDD with treatable or intractable seizures. |
| Author | Monaghan, Kristin G. Ellingson, Marissa S. Infante, Elena M. Nava, Caroline Binsbergen, Ellen Kushary, Sulagna Chong, Josephine S. C. Mancini, Grazia M. S. Heinzen, Erin L. Bi, Weimin Mignot, Cyril Sheehan, Theodore Baugh, Evan H. Keren, Boris Ruivenkamp, Claudia Lippa, Natalie Stong, Nicholas Schultz‐Rogers, Laura E. Burrage, Lindsay C. Lyons, Michael J. Steindl, Katharina Vasquez, Alejandra Ramsey, Keri Suwannarat, Pim Mathieu, Sophie Ferber, Matthew J. Simon, Marleen Thomas, Amanda Bend, Renee Brilstra, Eva Mulhern, Maureen S. Akman, Cigdem I. Hasadsri, Linda Groepper, Daniel White, Susan M. Poduri, Annapurna Sands, Tristan T. Aggarwal, Vimla Seeley, Andrea Bier, Louise Lee, Jennifer A. Bachman, Kristine Goldstein, David B. Bluvstein, Judith Klee, Eric W. Narayanan, Vinodh Barnett, Sarah Fleischer, Julie Hanchard, Neil A. Yeh, Raymond Rauch, Anita Joset, Pascal Koopmans, Marije Pais, Lynn Ernst, Michelle E. Leduc, Magalie S. Madan‐Khetarpal, Suneeta |
| AuthorAffiliation | 10. Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands 4. Department of Neurology, The Neurological Institute of New York, Columbia University Irving Medical Center, New York, NY 19. Center for Individualized Medicine, Mayo Clinic, Rochester, MN 21. Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 1. Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY 22. Clinical Genome Sequencing Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 13. Reference Center for Intellectual Disabilities of Rare Causes, Paris, France 31. GeneDx, Gaithersburg, MD 5. Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC 29. Department of Paediatrics, University of Melbourne, Melbourne, Australia 16. Department of Medical Genetics, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA 18. Geisinger Medical Cen |
| AuthorAffiliation_xml | – name: 20. Department of Health Sciences, Mayo Clinic, Rochester, MN – name: 24. Institute of Medical Genetics, University of Zürich, Schlieren-Zürich CH-8952, Switzerland – name: 26. Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester, MN – name: 21. Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN – name: 29. Department of Paediatrics, University of Melbourne, Melbourne, Australia – name: 1. Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY – name: 9. Mid-Atlantic Permanente Medical Group, Rockville, MD – name: 10. Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands – name: 16. Department of Medical Genetics, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA – name: 22. Clinical Genome Sequencing Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN – name: 30. Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA – name: 27. Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands – name: 28. Victorian Clinical Genetics Service, Murdoch Children’s Research Institute, Melbourne, Australia – name: 31. GeneDx, Gaithersburg, MD – name: 19. Center for Individualized Medicine, Mayo Clinic, Rochester, MN – name: 13. Reference Center for Intellectual Disabilities of Rare Causes, Paris, France – name: 15. Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, The Netherlands – name: 5. Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC – name: 7. Joint CUHK-Baylor Center of Medical Genetics, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China – name: 6. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX – name: 23. Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ – name: 4. Department of Neurology, The Neurological Institute of New York, Columbia University Irving Medical Center, New York, NY – name: 3. Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY – name: 12. Department of Genetics, APHP Sorbonne University, Paris, France – name: 17. School of Medicine, New York University, New York, NY – name: 25. Department of Neurology, Boston Children’s Hospital, Boston, MA – name: 2. Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY – name: 11. Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL – name: 14. Department of Neuropediatrics, APHP Sorbonne University, Trousseau Hospital, Paris, France – name: 8. Greenwood Genetic Center, Greenwood, SC – name: 18. Geisinger Medical Center, Danville, PA |
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| Cites_doi | 10.1007/s11010-011-0963-6 10.1002/humu.23307 10.1113/jphysiol.2008.151894 10.1111/epi.13709 10.1002/j.1460-2075.1993.tb05808.x 10.1016/j.bbrc.2004.07.158 10.1038/s41598-019-53484-9 10.1007/s00439-016-1661-y 10.1159/000147550 10.1002/humu.23270 10.1038/s10038-018-0559-z 10.1038/gim.2015.30 10.1007/s00018-009-9150-2 10.1073/pnas.88.22.10232 10.1038/s41586-020-2308-7 10.1002/humu.22844 10.1074/jbc.270.22.13017 10.1038/cdd.2017.180 |
| ContentType | Journal Article |
| Copyright | 2021 International League Against Epilepsy Copyright © 2021 International League Against Epilepsy 2021 International League Against Epilepsy. Distributed under a Creative Commons Attribution 4.0 International License |
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| Keywords | CSNK2A1 myoclonic seizures generalized epilepsy MSNE casein kinase II CK2 myoclonic status epilepticus |
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| Notes | Evan H. Baugh and Amanda Thomas contributed equally. Tristan T. Sands and Vimla Aggarwal contributed equally. ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 PMCID: PMC9189716 EB and AT contributed equally. TTS and VA contributed equally. |
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| References | 2009; 66 2011; 356 2019; 9 2015; 36 1993; 12 2015; 17 1994; 149 2004; 322 2019; 64 2020; 581 2017; 58 2017; 38 1991; 88 2016; 135 2008; 586 1995; 270 2018; 25 e_1_2_7_6_1 e_1_2_7_5_1 e_1_2_7_4_1 e_1_2_7_3_1 e_1_2_7_9_1 e_1_2_7_8_1 e_1_2_7_7_1 e_1_2_7_19_1 e_1_2_7_18_1 e_1_2_7_17_1 e_1_2_7_16_1 e_1_2_7_2_1 e_1_2_7_15_1 e_1_2_7_14_1 e_1_2_7_13_1 e_1_2_7_12_1 e_1_2_7_11_1 e_1_2_7_10_1 |
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| Snippet | CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been... CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been... |
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| SubjectTerms | Adolescent Adult Age of Onset casein kinase II Child Child, Preschool CK2 Convulsions & seizures CSNK2A1 Developmental Disabilities Epilepsies, Myoclonic Epilepsy Epilepsy, Generalized Exome Female generalized epilepsy Genetic Variation Humans Infant Intellectual disabilities Intellectual Disability Life Sciences Male MSNE Mutation myoclonic seizures myoclonic status epilepticus Neurodevelopmental disorders Phenotype Phenotypes Seizures Status Epilepticus Young Adult |
| Title | CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity |
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