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- W2011716441 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." @default.
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- W2011716441 date "2011-06-01" @default.
- W2011716441 modified "2023-10-17" @default.
- W2011716441 title "Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype" @default.
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- W2011716441 doi "https://doi.org/10.1016/j.yebeh.2011.03.003" @default.
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