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dc.contributor.authorMcCoy, Bláthnaid
dc.contributor.authorOwens, Cormac
dc.contributor.authorHowley, Rachel
dc.contributor.authorRyan, Stephanie
dc.contributor.authorKing, Mary
dc.contributor.authorFarrell, Michael A
dc.contributor.authorLynch, Bryan J
dc.date.accessioned2012-06-25T14:16:35Z
dc.date.available2012-06-25T14:16:35Z
dc.date.issued2011-11
dc.identifier.citationPartial status epilepticus - rapid genetic diagnosis of Alpers' disease. 2011, 15 (6):558-62 Eur. J. Paediatr. Neurol.en_GB
dc.identifier.issn1532-2130
dc.identifier.pmid21704543
dc.identifier.doi10.1016/j.ejpn.2011.05.012
dc.identifier.urihttp://hdl.handle.net/10147/230572
dc.description.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.
dc.language.isoenen
dc.rightsArchived with thanks to European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Societyen_GB
dc.subject.meshChild, Preschool
dc.subject.meshDNA-Directed DNA Polymerase
dc.subject.meshDiffuse Cerebral Sclerosis of Schilder
dc.subject.meshElectroencephalography
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshInfant
dc.subject.meshMagnetic Resonance Imaging
dc.subject.meshMagnetic Resonance Spectroscopy
dc.subject.meshMale
dc.subject.meshMutation
dc.subject.meshStatus Epilepticus
dc.titlePartial status epilepticus - rapid genetic diagnosis of Alpers' disease.en_GB
dc.typeArticleen
dc.contributor.departmentDepartments of Neurology, Children's University Hospital, Temple Street, Dublin 1, Ireland.en_GB
dc.identifier.journalEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Societyen_GB
dc.description.provinceLeinsteren
html.description.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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