Article
Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.
Epilepsy & behavior : E&B - 1 Jun 2011
Roshal David, Glosser David, Zangaladze Andro
Abstract excerpt
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;...
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