[New epileptic syndromes].
The recent and increasing interest for previously undescribed forms of epilepsy has been due to the description of families in which several affected members presented specific forms of epilepsy. Most epilepsies representing the description of new epilepsy phenotypes are partial epilepsies, although a new form of generalized epilepsy (generalized epilepsy with febrile seizures plus or GEFS+) has also been described. Our understanding of the clinical and genetic characteristics of the new familial epilepsy syndromes and the identification of informative families should 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, the identification of the responsible gene (the alpha 4 subunit of the nicotinic cholinergic receptor) and the characterization of a mutation in two families are a good example. The recognition of the new epilepsy syndromes is of great interest for clinical neurologists and should lead to the establishment of more precise prognoses and therapies. In those families with several affected members, genetic knowledge may be important for genetic counseling purposes.
Serratosa
J M
JM
Unidad de Epilepsia, Servicio de Neurología, Fundación Jiménez Díaz. serratosa@jet.es
D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D005625:Frontal Lobe / Q000503:physiopathology; D006801:Humans; D013577:Syndrome
Nuevos síndromes epilépticos.