Proof of progression over time: Finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation

Seizure

Volumn 18, Issue 3, 2009, Pages 232-234

  Boes, M ^a   Bauer, J ^a   Urbach, H ^a   Elger, C E ^a   Frank, S ^a   Baron, M ^a   Zsurka, G ^a   Kunz, W S ^a   Kornblum, C ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

Alpers syndrome; Brain MRI; Epileptic seizure; POLG mutation

Indexed keywords

AMINOTRANSFERASE; PROSTAGLANDIN SYNTHASE; VALPROIC ACID;

A467T GENE; ADOLESCENT; ALPERS DISEASE; ANAMNESIS; ARTICLE; AUTOPSY; BRAIN DISEASE; BRAIN HEMORRHAGE; BRAIN INFARCTION; BRAIN ISCHEMIA; CASE REPORT; CENTRAL NERVOUS SYSTEM; CLINICAL EXAMINATION; CLINICAL FEATURE; DETERIORATION; DIAGNOSTIC PROCEDURE; DISEASE COURSE; GENE; GENE MUTATION; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LABORATORY TEST; LIVER BIOPSY; LIVER DISEASE; MALE; MULTIPLE ORGAN FAILURE; MUSCLE BIOPSY; MUSCLE DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; POLG1 GENE; PRIORITY JOURNAL; PROMOTER REGION; PROPHYLAXIS;

ADOLESCENT; BRAIN; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DISEASE PROGRESSION; DNA-DIRECTED DNA POLYMERASE; HUMANS; LIVER DISEASES; MAGNETIC RESONANCE IMAGING; MALE; MUSCLES; MUTATION;

EID: 61349156086     PISSN: 10591311     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.seizure.2008.08.003     Document Type: Article

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