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Author

Esma Şengenç

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Open access Sep 2026

Celiac disease and developmental delay as the first manifestations of tripeptidyl peptidase 2 deficiency

shift toward a senescent B-cell profile may represent an important feature of the immune dysregulation observed in our patient. The combination of reduced functional B-cell subsets and underlying immune senescence likely explains the patient's susceptibility to recurrent otitis media and pneumonia despite complete diet...

Nursena Kologlu Ates, Dilan Demir Gumus, Ipek Ulkersoy et al. · 0 citations
Open access Jul 2026

Molecular Analysis of SCN1A Gene Variants Associated with Dravet Syndrome: Implications for Diagnosis and Management.

SCN1A-confirmed DS is associated with substantial seizure burden and neurodevelopmental morbidity, and delayed molecular diagnosis may lead to inappropriate treatment exposure and seizure worsening.

Esma Şengenç, Şeyma Sönmez Şahin, A. Iscan et al. · 0 citations

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