Iffland Philip H, Crino Peter B
Post-doctoral research fellow, Shriners Hospitals Pediatric Research Center, Lewis Katz School of Medicine, Temple University, Philadelphia, PA.
Post-doctoral research fellow, Shriners Hospitals Pediatric Research Center, Lewis Katz School of Medicine, Temple University, Philadelphia, PA; Professor and Vice Chair, Department of Neurology, Temple University Hospital, Philadelphia, PA.
Epilepsy Curr. 2016 May-Jun;16(3):158-63. doi: 10.5698/1535-7511-16.3.158.
Advances in gene sequencing techniques have led to a dramatic increase in the number of signaling cascade and cytoskeletal assembly mutations associated with malformations of cortical development and epilepsy. At the forefront of this research are novel mutations found in regulators of the PI3K/AKT/mTOR cascade and tubulin-associated malformations of cortical development. However, there is limited understanding of the consequences of these newly discovered germline and somatic mutations on cellular function or how these changes in cell biology may lead to areas-large or small-of malformed cortex and recurrent spontaneous seizures. We summarize and discuss what is currently known in this field in an effort to shine light on vast gaps in our knowledge of relatively common causes of cortical malformations.
基因测序技术的进步导致与皮质发育畸形和癫痫相关的信号级联和细胞骨架组装突变数量急剧增加。该研究的前沿是在PI3K/AKT/mTOR级联调节因子和微管蛋白相关的皮质发育畸形中发现的新突变。然而，对于这些新发现的种系和体细胞突变对细胞功能的影响，或者细胞生物学中的这些变化如何导致大小不一的皮质畸形区域和复发性自发性癫痫，人们了解有限。我们总结并讨论了该领域目前已知的情况，以期揭示我们在相对常见的皮质畸形病因知识方面存在的巨大差距。
