Problems of differential diagnosis of myoclon us-epilepsy associated with the mutation of the POLG gene and juvenile myoclonic epilepsy: a clinical case

Abstract

Mutations of POLG gene can cause a variety of clinical manifestations, including autosomal recessive or autosomal dominant mitochondrial diseases. The article presents a clinical case demonstrating the difficulty of differential diagnosis of POLG-associated disease and juvenile myoclonic epilepsy. The case demonstrates the importance of molecular genetic diagnosis in idiopathic generalized epilepsy with atypical features for timely administration of appropriate therapy and minimize the development of adverse side reactions.

Keywords

• mitochondrial disease
• polg gene
• juvenile myoclonic epilepsy
• differential diagnosis
• therapy