Miller-Dieker Syndrome: Genetic Etiology, Neurocognitive Impact, and Clinical Implications in a Neuronal Migration Disorder

. These genes are critical for neuronal migration and brain cortical structure. Although the clinical profiles were not uniformly described, the literature supports links between these genetic pathogenic variants and developmental delay, epilepsy, and intellectual disability. Neuroimaging is a fundamental tool for the diagnosis and structural characterization of MDS. However, this review primarily focused on the genetic and neurocognitive dimensions. While some studies mentioned imaging findings, detailed neuroanatomical data were not systematically or consistently reported across the literature, which limited their inclusion in the comparative analysis presented in this manuscript. MDS exemplifies a severe genetic disorder of neuronal migration. Genetic and neurocognitive evaluation is key for early diagnosis and management. Future research should focus on integrative neurodevelopmental models and potential molecular therapies.