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Article

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

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2011

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

Abstract excerpt

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.

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

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