title: A mitochondrial malady: stubborn seizures and atypical migraine.
abstract: 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 common, but probably underrecognised, mitochondrial disease.
authors.affiliation: R Davey, Pinderfields Hospital, Aberford Road, Wakefield WF14 DG, UK. Email richard.davey@midyorks.nhs.uk.
authors.forename: M
authors.initials: M
authors.lastname: Vinjam
authors.forename: R
authors.initials: R
authors.lastname: Newby
authors.forename: R
authors.initials: R
authors.lastname: Davey
mesh_terms: D001259:Ataxia / Q000209:etiology; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008881:Migraine Disorders / Q000209:etiology*; D028361:Mitochondrial Diseases / Q000150:complications* / Q000235:genetics*; D009154:Mutation; D013226:Status Epilepticus / Q000209:etiology*; D055815:Young Adult
chemical_list: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human
keywords: epilepsy; ganglionopathy; migraine; mitochondrial; polymerase-γ