La ricerca gemellologica nell'epilessia

Abstract

SUMMARYThe A. has studied 51 pairs of epileptic twins: 20 were MZ (11 ♂, 9 ♀) and 31 DZ (9 ♂ 12 ♀, ♂♀).An ereditary aetiology has been found in 65% of cases:a) by the concordance of 80% of MZ against 35% of DZ. The MZ concordant in the symptomatic form were 62,5% the DZ 14, 5% the MZ concordant in the so-called idiopathic form were 91%, the DZ 50%.b) by the incidence in one third of the families of a relative with epileptic seizures (3-4,7% against the 0,5% of general population).Genic information is not specific either for the convulsive form nor for the electroencephalografic dysrythmia which are only some of the phenotypic manifestations of a deeper disturbance. The pathologic gene or genes should act at a metabolic level with a pleiotropic action upon more functions of the nervous system. The genetic action of the major gene is that of an autosomic, dominant one.