[Genetics of epilepsy].
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.
Charria-Ortiz
Gustavo A
GA
Division of Child Neurology, University of Miami Leonard Millar School of Medicine, Miami Children's Hospital, Miami, Florida, USA. gcharria@med.miami.edu
D053447:Channelopathies / Q000175:diagnosis / Q000235:genetics*; D018118:Chloride Channels / Q000235:genetics; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007473:Ion Channels / Q000235:genetics*; D009154:Mutation; D018079:Receptors, GABA / Q000235:genetics; D013577:Syndrome
D018118:Chloride Channels; D007473:Ion Channels; D018079:Receptors, GABA