Identification of epilepsy concomitant candidate genes recognized in Saudi epileptic patients

Eur Rev Med Pharmacol Sci. 2022 Mar;26(6):2143-2157. doi: 10.26355/eurrev_202203_28362.

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.

Publication types

  • Review

MeSH terms

  • ATP-Dependent Proteases / genetics
  • ATPases Associated with Diverse Cellular Activities / genetics
  • DNA Repair Enzymes / genetics
  • Epilepsy* / 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

Substances

  • FRRS1L protein, human
  • KCNT1 protein, human
  • Membrane Proteins
  • Membrane Transport Proteins
  • Nerve Tissue Proteins
  • Potassium Channels, Sodium-Activated
  • SLC19A3 protein, human
  • SZT2 protein, human
  • PNKP protein, human
  • Phosphotransferases (Alcohol Group Acceptor)
  • Protein Serine-Threonine Kinases
  • TBCK protein, human
  • ATP-Dependent Proteases
  • AFG3L2 protein, human
  • ATPases Associated with Diverse Cellular Activities
  • DNA Repair Enzymes