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Identification of epilepsy concomitant candidate genes recognized in Saudi epileptic patients.
- Source :
-
European review for medical and pharmacological sciences [Eur Rev Med Pharmacol Sci] 2022 Mar; Vol. 26 (6), pp. 2143-2157. - Publication Year :
- 2022
-
Abstract
- 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.
- Subjects :
- ATP-Dependent Proteases genetics
ATPases Associated with Diverse Cellular Activities genetics
DNA Repair Enzymes genetics
Humans
Membrane Proteins genetics
Membrane Transport Proteins genetics
Mutation
Nerve Tissue Proteins genetics
Phosphotransferases (Alcohol Group Acceptor) genetics
Potassium Channels, Sodium-Activated
Protein Serine-Threonine Kinases
Saudi Arabia
Epilepsy genetics
Subjects
Details
- Language :
- English
- ISSN :
- 2284-0729
- Volume :
- 26
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- European review for medical and pharmacological sciences
- Publication Type :
- Academic Journal
- Accession number :
- 35363364
- Full Text :
- https://doi.org/10.26355/eurrev_202203_28362