Abstract
DNA polymerase γ is the only known DNA polymerase in human mitochondria, and is essential for mitochondrial DNA replication and repair.DNA polymerase γ is encoded by POLG gene.POLG-related disorders resulted from mutations of POLG gene comprise a continuum of overlapping phenotypes including Alpers Huttenlocher syndrome and other five subtypes, with high prevalence rate at patients with intractable seizure.Genetic testing for POLG mutations in patients with intractable epilepsies is very important for clinical diagnostics, genetic counseling, and treatment decisions because of the increased risk for VPA-induced liver failure in patients with POLG mutations. Key words: POLG gene; Mutation; Mitochondrial disease; VPA
Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
