Epilepsy and genetics: A review

Abstract

The term "epilepsy" refers to a wide range of conditions, the majority of which are triggered by interactions between many genes and environmental variables. Genetic epilepsies caused by single-gene alterations or specific structural chromosomal anomalies such as micro-deletions are much infrequent. These rare genetic forms of epilepsy often exhibit distinct clinical features and can provide valuable insights into the underlying biological mechanisms involved in seizure generation. The advancements in epilepsy genetics over the last ten to twenty years have opened up new avenues for diagnosis and treatment. For instance, many types of genetic epilepsies are discussed to show the multiple paths that might lead from genes to seizures. It has become evident that different genetic alterations can disrupt neuronal excitability, synaptic function, ion channel activity, or other critical biological processes, ultimately leading to seizure activity. Furthermore, the identification of specific genetic variants associated with drug response or treatment resistance has provided valuable insights into personalized therapeutic strategies for individuals with epilepsy.