title: Partial status epilepticus - rapid genetic diagnosis of Alpers' disease.
abstract: We describe four children with a devastating encephalopathy characterised by refractory focal seizures and variable liver dysfunction. We describe their electroencephalographic, radiologic, genetic and pathologic findings. The correct diagnosis was established by rapid gene sequencing. POLG1 based Alpers' disease should be considered in any child presenting with partial status epilepticus.
authors.affiliation: Departments of Neurology, Children's University Hospital, Temple Street, Dublin 1, Ireland.
authors.forename: Bláthnaid
authors.initials: B
authors.lastname: McCoy
authors.forename: Cormac
authors.initials: C
authors.lastname: Owens
authors.forename: Rachel
authors.initials: R
authors.lastname: Howley
authors.forename: Stephanie
authors.initials: S
authors.lastname: Ryan
authors.forename: Mary
authors.initials: M
authors.lastname: King
authors.forename: Michael A
authors.initials: MA
authors.lastname: Farrell
authors.forename: Bryan J
authors.initials: BJ
authors.lastname: Lynch
mesh_terms: D002675:Child, Preschool; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009154:Mutation / Q000235:genetics*; D013226:Status Epilepticus / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*
chemical_list: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human