Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene.

doi:10.12659/msm.881716

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Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene.

Medical science monitor : international medical journal of experimental and clinical research - 1 Apr 2011

Pronicka Ewa, Weglewska-Jurkiewicz Anna, Pronicki Maciej, Sykut-Cegielska Jolanta, Kowalski Pawel, Pajdowska Magdalena, Jankowska Irena, Kotulska Katarzyna, Kalicinski Piotr, Jakobkiewicz-Banecka Joanna, Wegrzyn Grzegorz

Abstract excerpt

BACKGROUND: POLG (polymerase gamma) gene mutations lead to a variety of neurological disorders, including Alpers-Huttenlocher syndrome (AHS). The diagnostic triad of AHS is: resistant epilepsy, liver impairment triggered by sodium valproate (VA), and mitochondrial DNA depletion. MATERIAL/METHODS: A cohort of 28 children with mitochondrial encephalopathy and liver failure was qualified for retrospective study of...

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PMID: 21455106
DOI: 10.12659/msm.881716
PMCID: PMC3539522

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POLG

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