Neuropathology and epilepsy surgery: 2022 update.

Area of Science:

• Neuropathology
• Epileptology
• Molecular Genetics

Background:

• Diagnostic disagreement in epilepsy surgery management stems from imprecise histopathology.
• Recent advances in genotype-phenotype characterization and DNA methylation studies offer new diagnostic avenues for epilepsy-associated brain lesions.

Purpose of the Study:

• To review recent advancements in neuropathology and epilepsy surgery.
• To highlight progress in genotype-phenotype association studies for Focal Cortical Dysplasia (FCD).
• To discuss the implications of new tumor classifications in epilepsy.

Main Methods:

• Selection of recent articles focusing on neuropathology and epilepsy surgery improvements.
• Analysis of genotype-phenotype association studies in FCD, including molecularly defined entities like MOGHE and SLC35A2 alterations.
• Review of emerging evidence on the role of BRAF V600E in epileptogenesis and tumor development.

Main Results:

• Discovery of new molecularly defined FCD entities (e.g., MOGHE, SLC35A2 altered).
• Update of the international FCD classification scheme to improve diagnostic agreement.
• Discussion of new WHO tumor entities and their link to early seizure onset, supported by BRAF V600E research.

Conclusions:

• Genotype-phenotype studies and molecular workup are crucial for precise diagnosis and improved patient management in epilepsy surgery.
• Updated FCD classification and understanding of molecular drivers will enhance diagnostic consistency.
• Further research into novel tumor entities and their epileptogenic potential is warranted.