Mitochondrial Causes of Epilepsy
Mitochondrial Causes of Epilepsy
Nonsyndromic mitochondrial disease occurs frequently—particularly early in the disease course. Reflecting this, 50% to 70% of children manifesting seizures in the context of a respiratory chain defect (RCD) have a nonsyndromic diagnosis. In contrast, similar adult patients have nonsyndromic features in approximately 40% of cases.
Chevellier studied 165 adults and children with confirmed mitochondrial disease, of whom roughly a third (n = 60) had had a previously identified seizure. Most patients included in the study had neither a (mitochondrial) syndromic (68%) nor molecular genetic diagnosis (72%). Perhaps surprisingly, 70% of this population was well controlled with treatment—although the proportion of these with and without a mitochondrial syndromic diagnosis is unknown. This is in keeping with the proportion of individuals with epilepsy of all causes who can achieve seizure freedom with appropriate medication.
Epilepsy in Nonsyndromic Mitochondrial Disease
Nonsyndromic mitochondrial disease occurs frequently—particularly early in the disease course. Reflecting this, 50% to 70% of children manifesting seizures in the context of a respiratory chain defect (RCD) have a nonsyndromic diagnosis. In contrast, similar adult patients have nonsyndromic features in approximately 40% of cases.
Chevellier studied 165 adults and children with confirmed mitochondrial disease, of whom roughly a third (n = 60) had had a previously identified seizure. Most patients included in the study had neither a (mitochondrial) syndromic (68%) nor molecular genetic diagnosis (72%). Perhaps surprisingly, 70% of this population was well controlled with treatment—although the proportion of these with and without a mitochondrial syndromic diagnosis is unknown. This is in keeping with the proportion of individuals with epilepsy of all causes who can achieve seizure freedom with appropriate medication.
Source...