[Genetics of the partial epilepsy].
Until recently, research in the field of genetics of the epilepsies had mainly focused on the idiopathic generalized epilepsies and the progressive myoclonic epilepsies. Interest in the genetics of the partial epilepsies has now increased due to the identification of several forms of partial epilepsies with a strong genetic component. The genetic partial epilepsies appear to be more common than expected and each description of a new syndrome is followed by reports of more patients and families. Understanding the clinical and genetic characteristics of the new familial partial epilepsy syndromes and identifying informative families will accelerate the discovery of the basic mechanisms implicated in the production of partial seizures. The recent description of the syndrome of autosomal dominant nocturnal frontal lobe epilepsy, its localization to chromosome 20, and the identification of the responsible gene and mutation in the alpha 4 subunit of the nicotinic cholinergic receptor in an Australian family are a good example. Future discoveries in the genetics of the partial epilepsies will have important diagnostic, prognostic and therapeutic implications and will allow us to apply more specific treatments for each syndrome, offer a prognosis to patients and develop novel forms of therapy.
Serratosa
J M
JM
Unidad de Epilepsia, Fundación Jiménez Díaz, Madrid.
D000328:Adult; D017668:Age of Onset; D004828:Epilepsies, Partial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D014960:X Chromosome
Genética de las epilepsias parciales.