Infantile Spasms with Basal Ganglia MRI Hypersignal May Reveal Mitochondrial Disorder Due to T8993G MT DNA Mutation

Neuropediatrics

Volumn 34, Issue 5, 2003, Pages 265-269

  Desguerre, Isabelle ^a   Pinton, F ^a   Nabbout, R ^a   Moutard, M L ^a   N'Guyen, S ^b   Marsac, C ^c   Ponsot, G ^a,d   Dulac, O ^a,d  

^a HÔPITAL SAINT VINCENT DE PAUL   (France)

^b Hopital Mere Enfant CHU de Nantes   (France)

^c CERTO   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Infantile spasms; Mitochondriopathy; NARP mutation; West syndrome

Indexed keywords

DNA; STEROID; VIGABATRIN;

ARTICLE; BASAL GANGLION; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; CHILD BEHAVIOR; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; FOLLOW UP; GENE MUTATION; HUMAN; INFANT; INFANTILE SPASM; LEIGH LIKE SYNDROME; MALE; NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RETINOPATHY; TREATMENT OUTCOME; WEST SYNDROME;

ADENOSINE TRIPHOSPHATASES; ANTICONVULSANTS; BASAL GANGLIA; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTROENCEPHALOGRAPHY; FEMALE; GENE EXPRESSION; HUMANS; INFANT; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; POINT MUTATION; SPASMS, INFANTILE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0242467998     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2003-43258     Document Type: Article

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