[Genes and epilepsy I: epilepsy and genetic alterations].
BACKGROUND
Epilepsy is a neurological disorder characterized by spontaneous and recurrent seizures with an estimated prevalence of 2-3 % in the world population. Epileptic seizures are the result of paroxystic and hypersynchronous electrical activity, preferentially in cortical areas, caused by panoply of structural and neurochemical dysfunctions. Recent advances in the field have focused on the molecular mechanisms involved in the epileptogenic process.


OBJECTIVE
In the present review, we describe the main genetic alterations associated to the process of epileptogenesis and discuss the new findings that are shedding light on the molecular substrates of monogenic idiopathic epilepsies (MIE) and on genetically complex epilepsies (GCE).


CONCLUSIONS
Linkage and association studies have shown that mutations in ion channel genes are the main causes of MIE and of predisposition for GCE. Moreover, mutations in genes involved in neuronal migration, glycogen metabolism and respiratory chain are associated to other syndromes involving seizures. Therefore, different gene classes contribute to the epileptic trait. The identification of epilepsy-related gene families can help us understand the molecular mechanisms of neuronal hyperexcitability and recognize markers of early diagnosis as well as new treatments for these epilepsies.
Gitaí
Daniel L G
DL
Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo, São Paulo, SP. danielgitai@gmail.com
Romcy-Pereira
Rodrigo N
RN
Gitaí
Lívia L G
LL
Leite
João P
JP
Garcia-Cairasco
Norberto
N
Paço-Larson
Maria Luisa
ML
D004827:Epilepsy / Q000235:genetics*; D006003:Glycogen / Q000378:metabolism; D006801:Humans; D007473:Ion Channels / Q000235:genetics; D009154:Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
D007473:Ion Channels; D006003:Glycogen