Malformations of cortical development encompass heterogeneous groups of structural brain anomalies associated with complex neurodevelopmental disorders and diverse genetic and nongenetic etiologies. Recent progress in understanding the genetic basis of brain malformations has been driven by extraordinary advances in DNA sequencing technologies. For example, somatic mosaic mutations that activate mammalian target of rapamycin signaling in cortical progenitor cells during development are now recognized as the cause of hemimegalencephaly and some types of focal cortical dysplasia. In addition, research on brain development has begun to reveal the cellular and molecular bases of cortical gyrification and axon pathway formation, providing better understanding of disorders involving these processes. New neuroimaging techniques with improved resolution have enhanced our ability to characterize subtle malformations, such as those associated with intellectual disability and autism. In this review, we broadly discuss cortical malformations and focus on several for which genetic etiologies have elucidated pathogenesis.

中文翻译：

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脑皮质发育畸形：分子和机制。

皮质发育畸形包括与复杂的神经发育障碍以及多种遗传和非遗传病因有关的结构性大脑异质性组。DNA测序技术的非凡进步推动了人们对理解大脑畸形的遗传基础的最新进展。例如，现已认识到在发育过程中激活皮质前体细胞中雷帕霉素信号转导的哺乳动物靶标的体细胞镶嵌突变是引起半巨脑和某些类型的局灶性皮质发育不良的原因。此外，对大脑发育的研究已开始揭示皮质回旋和轴突途径形成的细胞和分子基础，从而使人们更好地了解涉及这些过程的疾病。具有更高分辨率的新神经影像技术提高了我们表征细微畸形（例如与智障和自闭症相关的畸形）的能力。在这篇综述中，我们广泛讨论了皮质畸形，并着重于遗传病因阐明了发病机理的几种。