Partial status epilepticus - rapid genetic diagnosis of Alpers' disease.
Farrell, Michael A
Lynch, Bryan J
AffiliationDepartments of Neurology, Children's University Hospital, Temple Street, Dublin 1, Ireland.
DNA-Directed DNA Polymerase
Diffuse Cerebral Sclerosis of Schilder
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy
MetadataShow full item record
CitationPartial status epilepticus - rapid genetic diagnosis of Alpers' disease. 2011, 15 (6):558-62 Eur. J. Paediatr. Neurol.
JournalEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
AbstractWe 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.
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