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Epilepsy Behav. 2011 Jun;21(2):206-10. doi: 10.1016/j.yebeh.2011.03.003. Epub 2011 Apr 22.

Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

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  • 1Department of Neurology, Thomas Jefferson University Hospital, Philadelphia, PA, USA.


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.

Copyright © 2011 Elsevier Inc. All rights reserved.

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