Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis
The predictive value for epilepsy panel testing was 28% in the cohort. Our study revealed the importance of reanalysis of VUS variants and contributed to enriching the mutation spectrum in epilepsy.
Authors
- Serdal Güngör (ORCID: https://orcid.org/0000-0003-3875-6770)
- Murat Öztürk (ORCID: https://orcid.org/0000-0002-9677-3651)
- İbrahim Tekedereli (ORCID: https://orcid.org/0000-0002-3300-8020)
- Özden Öztürk (ORCID: https://orcid.org/0000-0001-8558-7901)
- Bilge Özgör (ORCID: https://orcid.org/0000-0002-6697-7629)
- Ahmet Sığırcı (ORCID: https://orcid.org/0000-0001-9221-0002)
- Naile Nisa Erguven
- Kübra Ateş (ORCID: https://orcid.org/0000-0002-0669-8230)
- Zeynep Esener (ORCID: https://orcid.org/0000-0001-6579-6132)
Institutions
- Balıkesir University (TR)
- Inonu University (TR)
- Batman University (TR)
- Directorate of Health (IS)
- Antalya Eğitim ve Araştırma Hastanesi (TR)
- Sakarya Eğitim ve Araştırma Hastanesi (TR)
- General Directorate of Forestry (TR)
- Antalya IVF (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-08-29
- DOI
- https://doi.org/10.1159/000540762
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00