Epilepsy and Genes: Genetic Foundations

Overview

Epilepsy is a widespread, serious neurological disorder worldwide. Approximately 30-40% of epilepsy is caused by genetic predisposition. The risk of epilepsy increases two to four times in first-degree relatives of people with inherited epilepsy.

Drug Resistance and Genetic Factors

Although epilepsy can often be treated successfully, not all patients respond positively to medical treatments, which can lead to pharmaco-resistant epilepsy. Drug-resistant epilepsy can result from a series of mechanisms that may include environmental and genetic factors as well as disease and drug-related factors.

Genetic Mechanisms

In recent years, numerous studies have shown that mutations in genes associated with drug resistance play a role in epilepsy drug resistance, particularly genes encoding voltage-gated sodium and potassium channels and including endogenous/xenobiotic substance metabolizers.

Gene Mutations

Mutation Definition

A gene mutation is a permanent change in the DNA sequence of a gene that leads to problems with the gene’s protein product. There are many different types of mutations, from changes in a single base (A, T, C, or G) or a few bases to changes covering a much larger region.

Mutation Scope

Sometimes the mutation can involve multiple genes or an entire chromosome. Mutations in genes may be inherited from affected or carrier parents (familial) or may occur for the first time in the child (de novo).

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