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

Volumn 17, Issue 4, 2011, Pages 203-209

  Pronicka, Ewa ^a   Weglewska Jurkiewicz, Anna ^a,b   Pronicki, Maciej ^a   Sykut Cegielska, Jolanta ^a   Kowalski, Pawel ^a   Pajdowska, Magdalena ^a   Jankowska, Irena ^a   Kotulska, Katarzyna ^a   Kaliciński, Piotr ^a   Jakóbkiewicz Banecka, Joanna ^b   Wȩgrzyn, Grzegorz ^b  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b UNIVERSITY OF GDA SK   (Poland)

Author keywords

Alpers Huttenlocher syndrome; Drug resistant epilepsy; POLG gene mutation; Valproate liver toxicity

Indexed keywords

GANCICLOVIR; MITOCHONDRIAL DNA; PREDNISONE; VALPROIC ACID;

ALPERS DISEASE; ARTICLE; AUTOPSY; CASE REPORT; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EPILEPSY; FAILURE TO THRIVE; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; INFANT; LACTIC ACIDEMIA; LIVER; LIVER FAILURE; LIVER TOXICITY; LIVER TRANSPLANTATION; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL ENCEPHALOPATHY; MUSCLE; NUCLEOTIDE SEQUENCE; POLG GENE; RETROSPECTIVE STUDY;

EID: 79953700540     PISSN: 12341010     EISSN: 16433750     Source Type: Journal    
DOI: 10.12659/msm.881716     Document Type: Article

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