The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children
Open accessAbstract
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of epilepsies characterized by early‐onset, refractory seizures associated with developmental regression or impairment, with a heterogeneous genetic landscape including genes implicated in various pathways and mechanisms. We retrospectively studied the clinical and genetic data of patients with genetic DEE who presented at two tertiary centers in Egypt over a 10‐year period. Exome sequencing was used for genetic testing. We report 74 patients from 63 unrelated Egyptian families, with a high rate of consanguinity (58%). The most common seizure type was generalized tonic–clonic (58%) and multiple seizure types were common (55%). The most common epilepsy syndrome was early infantile DEE (50%). All patients showed variable degrees of developmental impairment. Microcephaly, hypotonia, ophthalmological involvement and neuroimaging abnormalities were common. Eighteen novel variants were identified and the phenotypes of five DEE genes were expanded with novel phenotype–genotype associations. Obtaining a genetic diagnosis had implications on epilepsy management in 17 patients with variants in 12 genes. In this study, we expand the phenotype and genotype spectrum of DEE in a large single ethnic cohort of patients. Reaching a genetic diagnosis guided precision management of epilepsy in a significant proportion of patients.
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Recessive causes occur more frequently in populations with high rates of consanguinity.
“whereas, recessive causes occur more frequently in populations with high rates of consanguinity 14 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [14]
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Developmental 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
- Authors
- Elkhateeb, N., Issa, M. Y., Elbendary, H. M., Elnaggar, W., Ramadan, A., Rafat, K., Kamel, M., Abdel‐Ghafar, S. F., Amer, F., Hassaan, H. M., Trunzo, R., Pereira, C., Abdel‐Hamid, M. S., D'Arco, F., Bauer, P., Bertoli‐Avella, A. M., Girgis, M., Gleeson, J. G., Zaki, M. S., & Selim, L.
- Affiliations
- Cairo University (EG)
- National Research Centre (EG)
- Centogene (Germany) (DE)
- Radiology Department Great Ormond Street Hospital for Children London UK
- University of California San Diego (US)
- Corresponding author
- Elkhateeb, Nour
- ORCID
- Elkhateeb, Nour
- Issa, Mahmoud Y.
- Elbendary, Hasnaa M.
- Elnaggar, Walaa
- Rafat, Karima
- Kamel, Mona
- Abdel‐Ghafar, Sherif F.
- Amer, Fawzia
- Hassaan, Hebatallah M.
- Trunzo, Roberta
- Pereira, Catarina
- Abdel‐Hamid, Mohamed S.
- D'Arco, Felice
- Bauer, Peter
- Bertoli‐Avella, Aida M.
- Girgis, Marian
- Gleeson, Joseph G.
- Zaki, Maha S.
- Selim, Laila
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2024-01-14
- Volume
- 105
- Issue
- 5
- Pages
- 510-522
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W4390883154
- Cited by
- 7
- References
- 59
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 3
- FWCI
- 2.05
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- 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, genetic diagnosis, consanguinity, novel variants, genotype-phenotype correlation, generalized tonic-clonic seizures, developmental regression, microcephaly, hypotonia, neuroimaging abnormalities, Egyptian children, epilepsy management
- MeSH terms
- Child, Egypt, Epilepsy, Epilepsy, Generalized, Humans, Phenotype, Retrospective Studies, Seizures
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