Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus

Epilepsia

Volumn 49, Issue 6, 2008, Pages 1038-1045

  Uusimaa, Johanna ^a,b   Hinttala, Reetta ^a,b   Rantala, Heikki ^a   Päivärinta, Markku ^c   Herva, Riitta ^a   Röyttä, Matias ^c   Soini, Heidi ^a,b   Moilanen, Jukka S ^a,b   Remes, Anne M ^a,b   Hassinen, Ilmo E ^a   Majamaa, Kari ^a,b,c  

^a UNIVERSITY OF OULU   (Finland)

^b OULU UNIVERSITY HOSPITAL   (Finland)

^c UNIVERSITY OF TURKU   (Finland)

Author keywords

Genetic diseases; Metabolic diseases; Mitochondrial diseases; Status epilepticus

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; DNA POLYMERASE; MITOCHONDRIAL DNA;

ADOLESCENT; ALPERS DISEASE; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; EPILEPSY; EPILEPTIC STATE; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INTRACTABLE EPILEPSY; LIVER DISEASE; LIVER FAILURE; METABOLIC DISORDER; MIGRAINE; MITOCHONDRIAL DNA DEPLETION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ONSET AGE; POINT MUTATION; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SIBLING; STRUCTURAL GENE;

BRAIN; DIAGNOSIS, DIFFERENTIAL; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; ELECTROENCEPHALOGRAPHY; EPILEPSY, TONIC-CLONIC; FATAL OUTCOME; HOMOZYGOTE; LIVER; LIVER FAILURE, ACUTE; MIGRAINE DISORDERS; SEQUENCE ANALYSIS, DNA; STATUS EPILEPTICUS;

EID: 44849107452     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2008.01544.x     Document Type: Article

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