Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNAPhe gene

Neurology

Volumn 74, Issue 6, 2010, Pages 507-512

  Zsurka, G ^a   Hampel, K G ^a   Nelson, I ^b   Jardel, C ^a,d   Mirandola, S R ^a   Sassen, R ^a   Kornblum, C ^a   Marcorelles, P ^e   Lavoue S ^f   Lombes A ^b,c,d   Kunz, W S ^a  

^a UNIVERSITY OF BONN   (Germany)

^b INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e CHU MORVAN   (France)

^f RENNES UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; PHENYLALANINE TRANSFER RNA; PRIMIDONE; THIOPENTAL; TOPIRAMATE; VALPROIC ACID;

AMINO ACID SUBSTITUTION; ANTICODON; ARTICLE; ARTIFICIAL VENTILATION; BLINDNESS; CASE REPORT; CLINICAL FEATURE; COMPLEX PARTIAL SEIZURE; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; EPILEPSY; EPILEPTIC STATE; EXTRACHROMOSOMAL INHERITANCE; FEMALE; HETEROPLASMY; HISTOPATHOLOGY; HOMOPLASY; HUMAN; HUMAN TISSUE; INFANT; MALE; MUSCLE BIOPSY; MYOCLONUS EPILEPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION; PEDIGREE; POINT MUTATION; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SEIZURE; SKELETAL MUSCLE; SPASTIC PARESIS; TONIC CLONIC SEIZURE;

EID: 76649127089     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181cef7ab     Document Type: Article

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