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Genetics of Epilepsy and Refractory Epilepsy
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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
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