Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience.
Hamide Betul Gerik-Celebiİpek Dokurel ÇetinHilmi BolatGül Ünsel BolatPublished in: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience (2024)
Genotype-phenotype correlation is even more important in diseases such as epilepsy, which include many genes and variants of these genes in etiopathogenesis. We presented the clinical findings of the cases carrying 11 novel variants in detail, including dysmorphic features, accompanying neurodevelopmental disorders, EEG results, and brain MRI results.