Exome sequencing in Nigerian children with early‐onset epilepsy syndromes
This study represents the first published exome findings in Nigerian children with early-onset epilepsy, revealing a genetic diagnosis in 27% of cases. Pathogenic variants were identified in five genes amongst 6 of 22 patients, underscoring the potential of genetic testing to enhance epilepsy management in developing nations like Nigeria.
Authors
- Yagoub Adam (ORCID: https://orcid.org/0000-0001-6874-2543)
- Maximilian Radtke (ORCID: https://orcid.org/0000-0003-0150-9709)
- Solomon O. Rotimi (ORCID: https://orcid.org/0000-0002-3678-9977)
- Johannes R. Lemke (ORCID: https://orcid.org/0000-0002-4435-6610)
- Ibitayo Abigail Ademuwagun (ORCID: https://orcid.org/0000-0001-9971-4617)
- Ezekiel Adebiyi (ORCID: https://orcid.org/0000-0002-1390-2359)
- Steffen Syrbe (ORCID: https://orcid.org/0000-0003-2543-4844)
- Julia Hentschel (ORCID: https://orcid.org/0000-0002-5706-1424)
Institutions
- German Cancer Research Center (DE)
- Covenant University (NG)
- Heidelberg University (DE)
- University Hospital Heidelberg (DE)
- Makerere University (UG)
- Leipzig University (DE)
Publication Details
- Journal
- Epilepsia Open
- Published
- 2024-11-21
- DOI
- https://doi.org/10.1002/epi4.13106
- Citations
- 3
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.65
Funders
- National Institutes of Health
- Common Fund