Acta neurologica Scandinavica
-
Acta Neurol. Scand. · Jul 2007
Case ReportsBenign epileptiform discharges in Rolandic region with mesial temporal lobe epilepsy: MEG, scalp and intracranial EEG features.
To report benign epileptiform discharges (BEDs) in the Rolandic region, coexisting in a pediatric patient with intractable localization-related epilepsy, secondary to hippocampal sclerosis. ⋯ This is the first report on MEG and intracranial video EEG features of BEDs in the Rolandic region, coexisting with hippocampal sclerosis. Persistence of contralateral benign MEG Rolandic dipoles after surgery indicates that BEDs are coincidental in mesial temporal lobe epilepsy. MEG identified Rolandic dipoles, although was unable to localize the deep and focal epileptogenic dipoles from the hippocampal sclerosis.
-
Acta Neurol. Scand. · Jul 2007
ReviewGenetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation.
Mitochondrial disorders are frequently caused by mutations in mitochondrial genes and usually present as multisystem disease. One of the most frequent mitochondrial mutations is the A3,243G transition in the tRNALeu(UUR) gene. The phenotypic expression of the mutation is variable and comprises syndromic or non-syndromic mitochondrial disorders. ⋯ The wide phenotypic variability of the mutation is explained by the peculiarities of the mitochondrial DNA, such as heteroplasmy and mitotic segregation, resulting in different mutation loads in different tissues and family members. Moreover, there is some evidence that additional mtDNA sequence variations (polymorphisms, haplotypes) influence the phenotype of the A3,243G mutation. This review aims to give an overview on the actual knowledge about the genetic, pathogenetic, and phenotypic implications of the A3,243G mtDNA mutation.