[Genetics of epilepsy].

Medicina (B Aires)

Division of Child Neurology, University of Miami Leonard Millar School of Medicine, Miami Children's Hospital, Miami, Florida, USA.

Published: December 2008

AI Article Synopsis

  • Recent research has identified specific genetic abnormalities linked to classical epileptic syndromes, moving away from the idea that these conditions are purely idiopathic.
  • Most of these genetic defects involve genes related to ion channels and membrane receptors, highlighting their role in neuron electrochemical activity.
  • Despite these advancements, the practical application in clinical settings, especially concerning patient treatment and pharmacology, remains limited, raising ethical considerations and opportunities for neuro-pharmacogenomics.

Article Abstract

In the last few years, the presence of specific genetic abnormalities leading to some of the classical epileptic syndromes has been clearly elucidated. This means that for the first time, it has become possible to create a strong relationship between the presence of specific genomic and/or proteomic abnormalities and epileptic syndromes previously considered to be "idiopathic". The majority of such genetic defects have been found in genes coding for either ion channels and/or membrane receptors, a fact that somehow seems to confirm the previously postulated importance of the latter structures in the electrochemical activity of neurons. This review will focus on the genetic and clinical aspects of such conditions. Some of the most relevant data suggesting the existence of additional genetic defects in many other epileptic syndromes will also be briefly reviewed, even though a definitive relationship to many of them has not yet been established in the form of specific gene defects. In addition, the worrisome fact that despite the importance of such advances, their application in routine clinical practice remains very limited will be emphasized, in particular in the pharmacological management of most patients. Finally, a brief discussion about the intriguing possibilities of such findings, including the development of neuro-pharmacogenomics plus several ethical issues, will also be attempted.

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