Table of Contents:
  • Introduction
  • What is epilepsy?
  • Resting potential
  • Action potential
  • Are there any genetic bases for epilepsy?
  • Ligand-gated ion channels
  • Acetylcholine receptors CHRNA4, CHRNB2, and CHRNA2
  • Ion channels
  • Sodium channels
  • Potassium channel subunit mutations with LOF effects
  • Voltage-gated calcium channel mutations and genetic susceptibility
  • GABA receptor subunit mutations (chloride channel)
  • Copy number variants and comorbidities
  • Susceptibility genes for complex epilepsy
  • Glycine receptors
  • Ionotropic glutamate receptors
  • G-protein-coupled receptors
  • Metabotropic glutamate receptors
  • Other genetic causes of epilepsy
  • Mitochondrial inheritance and myoclonic epilepsy with ragged red fibers
  • Leucine-rich glioma inactivated gene 1 (LGI1)
  • Inborn errors of metabolism and epilepsy
  • Epilepsy and NMDs
  • FOLR1 gene mutation
  • Lysosomal storage disorders
  • The solute-carrier gene superfamily and epilepsy
  • Genes related with different epileptic syndromes
  • Genetic mechanisms of drug resistance in epilepsy
  • Definition of drug resistance in epilepsy
  • Genetics of drug response in epilepsy
  • Drug transport system
  • ABC transporters
  • ABC transporters and RE
  • MDR1 (ABCB1) gene variants
  • The BBB's role in pharmacoresistance in epilepsy
  • Induction of ABC transporters: is the acquired refractoriness an inducible process?
  • Genes and pharmacodynamic modifications
  • Inducing the expression of P-gp in neurons: is it to induce epileptogenesis?
  • References
  • Author biographies.