Publications by authors named "Sevgan Bozdogan"
Genes (Basel)
January 2022
Article Synopsis
- Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) is a rare genetic disorder characterized by early-onset epilepsy and intellectual disabilities, linked to mutations in a specific gene related to neuronal growth and communication.
- A study involving nine patients with POBINDS utilized advanced genetic sequencing to analyze their clinical data, revealing various symptoms including epilepsy, intellectual disabilities, and other abnormalities, along with discovering six new gene mutations not previously documented.
- While the study couldn’t establish a direct correlation between the type of mutations and specific symptoms, it contributed to a better understanding of the diverse ways POBINDS can manifest.
