Deficiency of complex I of the mitochondrial respiratory chain has been implicated in the pathogenesis of temporal lobe epilepsy (TLE). We evaluated whether the novel polymorphism (Ala29Val) in the mitochondrial 24-kDa subunit gene (NDUFV2) is a risk factor for TLE. We genotyped 133 patients with non-lesional TLE, and 126 controls. There were no differences between patients and controls in either allelic or genotypic frequencies of the NDUFV2. Moreover, there was no effect of NDUFV2 polymorphisms on the age at onset of epilepsy.
Genotype in the 24-kDa subunit gene (NDFUV2) of mitochondrial complex I and susceptibility to non-lesional temporal lobe epilepsy
Aguglia U;
2002-01-01
Abstract
Deficiency of complex I of the mitochondrial respiratory chain has been implicated in the pathogenesis of temporal lobe epilepsy (TLE). We evaluated whether the novel polymorphism (Ala29Val) in the mitochondrial 24-kDa subunit gene (NDUFV2) is a risk factor for TLE. We genotyped 133 patients with non-lesional TLE, and 126 controls. There were no differences between patients and controls in either allelic or genotypic frequencies of the NDUFV2. Moreover, there was no effect of NDUFV2 polymorphisms on the age at onset of epilepsy.File in questo prodotto:
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