In the past ten years, there has been increasing recognition that cells can acquire genetic variants during cortical development that can give rise to brain malformations as well as nonlesional focal epilepsy. These often brain tissue-specific, de novo variants can result in highly variable phenotypes based on the burden of a variant in specific tissues and cells. By discovering these variants, shared pathophysiological mechanisms are being revealed between clinically distinct disorders. Beyond informing disease mechanisms, mosaic variants also offer a powerful research tool to trace cellular lineages, to study the roles of specialized cell types in disease presentation, and to establish the cell-type specific genomic consequences of a variant.

中文翻译：

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癫痫中的体细胞变异——推进基因发现和疾病机制。

在过去的十年中，越来越多的人认识到，细胞可以在皮质发育过程中获得遗传变异，从而导致大脑畸形和非病灶性局灶性癫痫。根据特定组织和细胞中变异的负担，这些通常是脑组织特异性的从头变异会导致高度可变的表型。通过发现这些变异，揭示了临床不同疾病之间的共同病理生理机制。除了告知疾病机制外，镶嵌变异还提供了一种强大的研究工具来追踪细胞谱系，研究特化细胞类型在疾病表现中的作用，并确定变异的细胞类型特异性基因组后果。