Toward a refined genotype-phenotype classification scheme for the international consensus classification of Focal Cortical Dysplasia

Focal Cortical Dysplasia (FCD) is the most common cause of drug-resistant focal epilepsy in children and young adults. The diagnosis of currently defined FCD subtypes relies on a histopathological assessment of surgical brain tissue. The many ongoing challenges in the diagnosis of FCD and their various subtypes mandate, however, continuous research and consensus agreement to develop a reliable classification scheme. Advanced neuroimaging and genetic studies have proven to augment the diagnosis of FCD subtypes and should be considered for an integrated clinico-pathological and molecular classification. In this review, we will discuss the histopathological foundation of the current FCD classification and potential advancements when using genetic analysis of somatic brain mutations in neurosurgically resected brain specimens and postprocessing of presurgical neuroimaging data. Combining clinical, imaging, histopathology, and molecular studies will help to define the disease spectrum better and finally unveil FCD-specific treatment options.

Automated summary

FCD is the most common cause of drug-resistant focal epilepsy in children and young adults, and the diagnosis relies on histopathological assessment of surgical brain tissue. Challenges exist in diagnosing FCD and its subtypes, necessitating continuous research and consensus for a reliable classification scheme. Combining clinical, imaging, histopathology, and molecular studies will help define the disease spectrum and develop specific treatment options for FCD.