Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing
These findings highlight the extensive genetic heterogeneity and phenotypic variability of DEE. WES demonstrates substantial value in identifying novel gene-disease associations and may be considered as a first-tier diagnostic tool in epilepsy and DEE.
Authors
- Bülent Kara (ORCID: https://orcid.org/0000-0003-3780-6596)
- Zeynep İlkay (ORCID: https://orcid.org/0000-0001-7256-6992)
- Adnan Deniz (ORCID: https://orcid.org/0000-0002-9385-3787)
- Ayfer Sakarya-Güneş
- Hakan Savlı (ORCID: https://orcid.org/0000-0003-2836-9881)
- Deniz Sünnetçi Akkoyunlu (ORCID: https://orcid.org/0000-0001-9297-8222)
- Naci Çine (ORCID: https://orcid.org/0000-0001-9063-1073)
- Elif Büşra Işik
- Tolgahan Özer (ORCID: https://orcid.org/0000-0001-5427-3811)
- Mehtap Yilmaz
- Süleyman Şahin (ORCID: https://orcid.org/0000-0001-9673-5826)
- Seda Eren‐Keskin
- Buket Doğruoğlu (ORCID: https://orcid.org/0000-0002-1138-7680)
Institutions
- Universitätsklinikum Erlangen (DE)
- Kocaeli Üniversitesi (TR)
Publication Details
- Journal
- Genes
- Published
- 2025-09-28
- DOI
- https://doi.org/10.3390/genes16101152
- Citations
- 3
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 5.45