Journal de l'épilepsie

Genetic Insights into Epilepsy: Identifying Key Mutations and their Implications for Treatment

Abstract

Siamak Azimzadeh

Epilepsy is a complex neurological disorder characterized by recurrent, unprovoked seizures. Affecting approximately 1 in 26 people over their lifetime, its management and treatment have historically been challenging, particularly due to the heterogeneous nature of the condition. Its underlying causes are multifaceted, but genetic factors play a pivotal role in many cases. Understanding the genetic basis of epilepsy has been transformative, shedding light on its pathophysiology and leading to more personalized treatment approaches. However, recent advances in genetics have provided profound insights into the molecular underpinnings of epilepsy, leading to the identification of key genetic mutations that have significant implications for treatment and personalized medicine.