Partial status epilepticus - rapid genetic diagnosis of Alpers' disease.

Hdl Handle:
http://hdl.handle.net/10147/230572
Title:
Partial status epilepticus - rapid genetic diagnosis of Alpers' disease.
Authors:
McCoy, Bláthnaid; Owens, Cormac; Howley, Rachel; Ryan, Stephanie; King, Mary; Farrell, Michael A; Lynch, Bryan J
Affiliation:
Departments of Neurology, Children's University Hospital, Temple Street, Dublin 1, Ireland.
Citation:
Partial status epilepticus - rapid genetic diagnosis of Alpers' disease. 2011, 15 (6):558-62 Eur. J. Paediatr. Neurol.
Journal:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Issue Date:
Nov-2011
URI:
http://hdl.handle.net/10147/230572
DOI:
10.1016/j.ejpn.2011.05.012
PubMed ID:
21704543
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.
Item Type:
Article
Language:
en
MeSH:
Child, Preschool; DNA-Directed DNA Polymerase; Diffuse Cerebral Sclerosis of Schilder; Electroencephalography; Female; Humans; Infant; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Mutation; Status Epilepticus
ISSN:
1532-2130

Full metadata record

DC FieldValue Language
dc.contributor.authorMcCoy, Bláthnaiden_GB
dc.contributor.authorOwens, Cormacen_GB
dc.contributor.authorHowley, Rachelen_GB
dc.contributor.authorRyan, Stephanieen_GB
dc.contributor.authorKing, Maryen_GB
dc.contributor.authorFarrell, Michael Aen_GB
dc.contributor.authorLynch, Bryan Jen_GB
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.en_GB
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

Related articles on PubMed

All Items in Lenus, The Irish Health Repository are protected by copyright, with all rights reserved, unless otherwise indicated.