Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies
Abstract
Microdeletions at 15q11.2, 15q13.3 and 16p13.11 are known genetic risk factors for idiopathic generalized epilepsies and other neurodevelopmental disorders. The full phenotypic range of this microdeletion triad in pediatric epilepsies is unknown. We attempted to describe associated phenotypes in a cohort of pediatric epilepsy patients. We screened 570 patients with pediatric epilepsies including idiopathic generalized epilepsies, focal epilepsies and fever-associated epilepsy syndromes for microdeletions at 15q11.2, 15q13.3 and 16p13.11 using quantitative polymerase chain reaction. Identified microdeletions were confirmed using array comparative hybridization. Ten microdeletions in 15q11.2 (n=3), 15q13.3 (n=3) and 16p13.11 (n=4) were identified (1.8%). 9/10 microdeletions were identified in patients with IGE (6/101, 6.0%) or patients with generalized EEG patterns without seizures (3/122, 2.5%). 6/10 microdeletion carriers had various degrees of ID; the frequency of microdeletions in patients with epilepsy and ID was higher (4.6%) compared to patients with normal intellect (0.9%). Iterative phenotyping revealed a wide range of generalized epilepsy phenotypes. In our pediatric cohort, recurrent microdeletions at 15q11.2, 15q13.3 and 16p13.11 are mainly associated with phenotypes related to idiopathic generalized epilepsies or related EEG patterns. In contrast to previous reports, these recurrent microdeletions are virtually absent in focal epilepsies, FS, FS+ and GEFS+. Microde…
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The medical literature indicates that the 15q11.2 BP1-BP2 microdeletion may be a risk factor for epilepsy.
“The medical literature surrounding this microdeletion syndrome and seizures indicate that this chromosomal anomaly may be a risk factor for epilepsy [29,41,42,43].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [42]
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- Authors
- Jähn, J. A., von Spiczak, S., Muhle, H., Obermeier, T., Franke, A., Mefford, H. C., Stephani, U., & Helbig, I.
- Affiliations
- University Hospital Schleswig-Holstein (DE)
- University of Washington (US)
- Corresponding author
- Helbig, Ingo
- Venue
- Epilepsy Research
- Publisher
- Elsevier BV
- Published
- 2014-01
- Volume
- 108
- Issue
- 1
- Pages
- 109-116
- ISSN
- 0920-1211 (ISSN-L)
- OpenAlex
- W2158621613
- Cited by
- 26
- References
- 10
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 2 · 2022: 1 · 2021: 3 · 2020: 4 · 2019: 1 · 2018: 3 · 2017: 2 · 2016: 2 · 2015: 3 · 2014: 2
- FWCI
- 1.65
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Epilepsy Research (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- pediatric epilepsy, idiopathic generalized epilepsy, focal epilepsy, intellectual disability, EEG patterns, genotype-phenotype correlation, neurodevelopmental disorders
- MeSH terms
- Adolescent, Child, Child, Preschool, Chromosome Aberrations, Chromosome Deletion, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 16, Electroencephalography, Epilepsy, Generalized, Female, Heterozygote, Humans, Male, Intellectual Disability, Pedigree, Phenotype, Recurrence, Seizures, Cohort Studies, Chromosome Disorders
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