Article
A mitochondrial malady: stubborn seizures and atypical migraine.
The journal of the Royal College of Physicians of Edinburgh - 1 Jan 2015
Vinjam M, Newby R, Davey R
Abstract excerpt
A 22-year-old female migraineur presented with recurrent convulsive status epilepticus and ataxia. Her epilepsy proved refractory to treatment, necessitating the use of five anti-epileptic drugs and a course of steroids. Genetic testing revealed compound heterozygosity for two mutations of the polymerase-? gene. The case highlights the clinical features and therapeutic challenges associated with this relatively...
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