Department of Pharmaceutical Sciences, College of Clinical Pharmacy, King Faisal University, Al-Ahsa, Saudi Arabia.
Eur Rev Med Pharmacol Sci. 2022 Mar;26(6):2143-2157. doi: 10.26355/eurrev_202203_28362.
Saudi Genome program is a revolutionary nationwide transformation initiative of Saudi Vision 2030. The program goals are to recognize and reduce the incidence of genetic diseases in the Kingdom of Saudi Arabia (KSA). Accordingly, the program will establish the foundation for personalized and genomic medicine in the KSA. Epilepsy has a high prevalence in KSA reaching around 6.54 of 1000 individuals with a subsequent massive financial burden. One of the main risk factors for this high prevalence and associated with increased risk of epilepsy development is consanguinity marriage, which is traditional in KSA. In this review, we executed a comprehensive state-of-art literature review regarding epilepsy genetics to offer a perception into the genes associated with epilepsy recognized in Saudi epileptic patients. Several genes' mutations were incorporated in this review including AFG3L2, ASPM, ATN1, ATP1A2, BMP5, CCDC88A, C12orf57, DNAJA1, EML1, ERLIN2, FRRS1L, GABRG3, NRXN3, MDH1, KCNJ10, KCNMA1, KCNT1, KIAA0226, OPHN1, PCCA, PCCB, PEX, PGAP2, PI4K2A, PODXL, PRICKLE1, PNKP, RELN, SCN2A, SCN1B, SLC2A1, SLC19A3, SLC25, SIAH1, SYNJ1, SZT2, TBCK, TMX2, TSC1, TSC2, TSEN, WDR45B, WWOX, UBR, UGDH, and YIF1B. For each of these genes, we tried to explain a little about the gene associated proteins and their roles in epilepsy development.
沙特基因组计划是沙特 2030 愿景的一项具有开创性的全国性转型计划。该计划的目标是识别和减少沙特阿拉伯王国（KSA）遗传疾病的发病率。因此，该计划将为 KSA 的个性化和基因组医学奠定基础。癫痫在 KSA 的发病率很高，约为每 1000 人中 6.54 人，随后带来了巨大的经济负担。这种高发病率的主要风险因素之一与癫痫发病风险增加有关，即近亲结婚，这在 KSA 是传统的。在这篇综述中，我们对癫痫遗传学进行了全面的文献综述，以了解在沙特癫痫患者中识别出与癫痫相关的基因。在这篇综述中纳入了几个基因突变，包括 AFG3L2、ASPM、ATN1、ATP1A2、BMP5、CCDC88A、C12orf57、DNAJA1、EML1、ERLIN2、FRRS1L、GABRG3、NRXN3、MDH1、KCNJ10、KCNMA1、KCNT1、KIAA0226、OPHN1、PCCA、PCCB、PEX、PGAP2、PI4K2A、PODXL、PRICKLE1、PNKP、REELN、SCN2A、SCN1B、SLC2A1、SLC19A3、SLC25、SIAH1、SYNJ1、SZT2、TBCK、TMX2、TSC1、TSC2、TSEN、WDR45B、WWOX、UBR、UGDH 和 YIF1B。对于这些基因中的每一个，我们都试图解释一下与基因相关的蛋白质及其在癫痫发病机制中的作用。
