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

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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Pronicka, Ewa, Węglewska-Jurkiewicz, Anna, Pronicki, Maciej, Sykut-Cegielska, Jolanta, Kowalski, Paweł, Pajdowska, Magdalena, Jankowska, Irena, Kotulska, Katarzyna, Kaliciński, Piotr, Jakóbkiewicz-Banecka, Joanna, Węgrzyn, Grzegorz
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: International Scientific Literature, Inc. 2011
Pynciau:
Clinical Research
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3539522/
https://ncbi.nlm.nih.gov/pubmed/21455106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12659/MSM.881716
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