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

Abstract

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.

• Authors: Ingmar Blumcke, Fernando Cendes, Hajime Miyata, Maria Thom, Eleonora Aronica, Imad Najm
• Journal: Brain pathology (Zurich, Switzerland) (Brain Pathol) Vol. 31 Issue 4 Pg. e12956 (Jul 2021) ISSN: 1750-3639 [Electronic] Switzerland
• PMID: 34196989 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2021 The Authors. Brain Pathology published by John Wiley & Sons Ltd on behalf of International Society of Neuropathology.

Topics

• Adolescent
• Brain (pathology)
• Consensus
• Drug Resistant Epilepsy (diagnosis, pathology)
• Female
• Genotype
• Humans
• Magnetic Resonance Imaging (methods)
• Male
• Malformations of Cortical Development (diagnosis, pathology)
• Middle Aged
• Neurosurgical Procedures (methods)
• Phenotype