Orsini Alessandro, Zara Federico, Striano Pasquale
Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, Institute "G. Gaslini" University of Genova, Genoa, Italy, Italy.
Pediatric Neurology and Muscular Diseases Unit, Laboratory of Neurogenetics, Institute "G. Gaslini", Genoa, Italy.
Neurosci Lett. 2018 Feb 22;667:4-9. doi: 10.1016/j.neulet.2017.05.014. Epub 2017 May 10.
In last few years there has been rapid increase in the knowledge of epilepsy genetics. Nowadays, it is estimated that genetic epilepsies include over than 30% of all epilepsy syndromes. Several genetic tests are now available for diagnostic purposes in clinical practice. In particular, next-generation sequencing has proven to be effective in revealing gene mutations causing epilepsies in up to a third of the patients. This has lead also to functional studies that have given insight into disease pathophysiology and consequently to the identification of potential therapeutic targets opening the way of precision medicine for epilepsy patients. This minireview is focused on the most recent advances in genetics of epilepsies. We will also overview the modern genomic technologies and illustrate the diagnostic pathways in patients with genetic epilepsies. Finally, the potential implications for a personalized treatment (precision medicine) are also discussed.
在过去几年中,癫痫遗传学知识迅速增长。如今,据估计遗传性癫痫占所有癫痫综合征的30%以上。目前临床实践中有几种基因检测可用于诊断目的。特别是,二代测序已被证明在揭示高达三分之一患者中导致癫痫的基因突变方面是有效的。这也引发了功能研究,这些研究深入了解了疾病的病理生理学,从而确定了潜在的治疗靶点,为癫痫患者开辟了精准医学之路。本综述聚焦于癫痫遗传学的最新进展。我们还将概述现代基因组技术,并阐述遗传性癫痫患者的诊断途径。最后,还将讨论个性化治疗(精准医学)的潜在意义。