Epilepsy due to mitochondrial disorders (Q86439)

Epilepsy due to multisystem disorders typically affecting infants, children and young adults, having in common mitochondrial DNA defects. Maternal inheritance with phenotypic variability in families is the general rule. Myoclonic seizures are the common types of seizures. Central nervous system involvement is prominent but with differing clinical manifestations according to the genetic defect. Other clinical conditions (e.g. diabetes, deafness, cardiomyopathy) may be also present. Excludes genetic syndromes primarily expressed as epilepsy.