title: Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.
abstract: We describe a 16-year-old woman with a rare POLG1 A467T/W748S genotype, with a wide range of neurological manifestations, including focal parieto-occipital lobe seizures, migraine headaches, cerebellar ataxia, sensory-motor axonal neuropathy, and impairment of visual perception and cognitive function. Treatment of epilepsy in patients with a POLG1 compound heterozygous A467T/W748S genotype is very challenging; the epilepsy may preferentially respond to sodium channel blockers. The POLG1-related syndrome has a variable clinical course, and disease morbidity and mortality may be correlated with the genotype.
authors.affiliation: Department of Neurology, Thomas Jefferson University Hospital, Philadelphia, PA, USA.
authors.forename: David
authors.initials: D
authors.lastname: Roshal
authors.forename: David
authors.initials: D
authors.lastname: Glosser
authors.forename: Andro
authors.initials: A
authors.lastname: Zangaladze
mesh_terms: D000293:Adolescent; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D004569:Electroencephalography / Q000379:methods; D004828:Epilepsies, Partial / Q000097:blood / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D019344:Lactic Acid / Q000097:blood; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics*; D010296:Parietal Lobe / Q000473:pathology*; D019289:Pyruvic Acid / Q000097:blood; D026941:Sodium Channel Blockers / Q000627:therapeutic use
chemical_list: D026941:Sodium Channel Blockers; D019344:Lactic Acid; D019289:Pyruvic Acid; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human