Neuropathological and Genetic Correlates of Rolandic Epilepsy: A Systematic Review of Pediatric Evidence

A bstract This literature review examines the neuropathological aspects of rolandic epilepsy, commonly referred to as benign epilepsy with centrotemporal spikes, which constitutes a notable segment of pediatric epilepsy cases. The review delineates the pathophysiological processes linked to this self-limiting focal epilepsy, emphasizing disruptions in thalamocortical circuits and neuroanatomical anomalies that influence motor and language functions. Neuroimaging studies indicate diminished functional connectivity within essential neural networks, while electroencephalogram analyses reveal distinctive centrotemporal spikes associated with the clinical features of the disorder. Genetic influences, particularly mutations in genes such as glutamate ionotropic receptor N-methyl-D-aspartate type subunit 2A and RNA-binding fox-1 homolog 1, are examined as factors contributing to the etiology of the condition and the neurodevelopmental hurdles encountered by affected children. A structured literature search across PubMed, Scopus, and Web of Science (1999–2024) identified 32 eligible peer-reviewed studies, selected based on strict inclusion criteria focusing on pediatric populations and neuroanatomical, electrophysiological, or genetic findings. The review underscores the intricate relationship between structural and functional alterations in the brain, including abnormalities in both white and gray matter, and their association with cognitive and behavioral challenges. Current research endeavors seek to clarify these connections, with the aim of enhancing diagnostic and therapeutic strategies for rolandic epilepsy, thereby improving clinical outcomes for those impacted.