Partial status epilepticus - rapid genetic diagnosis of Alpers' disease

Bláthnaid McCoy; Cormac Owens; Rachel Howley; Stephanie Ryan; Mary King; Michael A Farrell; Bryan J Lynch

doi:10.1016/j.ejpn.2011.05.012

Partial status epilepticus - rapid genetic diagnosis of Alpers' disease

Eur J Paediatr Neurol. 2011 Nov;15(6):558-62. doi: 10.1016/j.ejpn.2011.05.012. Epub 2011 Jun 24.

Authors

Bláthnaid McCoy¹, Cormac Owens, Rachel Howley, Stephanie Ryan, Mary King, Michael A Farrell, Bryan J Lynch

Affiliation

¹ Departments of Neurology, Children's University Hospital, Temple Street, Dublin 1, Ireland.

PMID: 21704543
DOI: 10.1016/j.ejpn.2011.05.012

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.

Publication types

Case Reports

MeSH terms

Child, Preschool
DNA Polymerase gamma
DNA-Directed DNA Polymerase / genetics*
Diffuse Cerebral Sclerosis of Schilder / complications
Diffuse Cerebral Sclerosis of Schilder / diagnosis*
Diffuse Cerebral Sclerosis of Schilder / genetics*
Electroencephalography
Female
Humans
Infant
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy
Male
Mutation / genetics*
Status Epilepticus / diagnosis*
Status Epilepticus / etiology
Status Epilepticus / genetics*

Substances

DNA Polymerase gamma
DNA-Directed DNA Polymerase
POLG protein, human