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.

中文翻译：

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迈向局灶性皮质发育不良国际共识分类的精细基因型-表型分类方案

局灶性皮质发育不良 (FCD) 是儿童和年轻人耐药性局灶性癫痫最常见的原因。目前定义的 FCD 亚型的诊断依赖于外科脑组织的组织病理学评估。然而，FCD 诊断及其各种亚型的许多持续挑战要求持续研究和达成共识，以制定可靠的分类方案。先进的神经影像学和遗传学研究已证明可增强 FCD 亚型的诊断，应考虑将其用于综合临床病理学和分子分类。在本次审查中，我们将讨论当前 FCD 分类的组织病理学基础以及在对神经外科切除的脑标本中的体细胞脑突变进行遗传分析以及对术前神经影像数据进行后处理时的潜在进展。结合临床、影像学、组织病理学和分子研究将有助于更好地定义疾病谱，并最终揭示 FCD 特异性治疗方案。