Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

European Journal of Human Genetics

Volumn 21, Issue 5, 2013, Pages 528-534

  Fragaki, Konstantina ^a,b   Ait El Mkadem, Samira ^a,b   Chaussenot, Annabelle ^a   Gire, Catherine ^c   Mengual, Raymond ^a   Bonesso, Laurent ^a   Beneteau, Marie ^d   Ricci, Jean Ehrland ^d   Desquiret Dumas, Valerie ^e,f   Procaccio, Vincent ^e,f   Rotig, Agnes ^g   Paquis Flucklinger, Veronique ^a,b  

^a UNIVERSITY HOSPITAL OF NICE   (France)

^b UNIVERSITY OF NICE SOPHIA ANTIPOLIS   (France)

^c HÔPITAL NORD   (France)

^d CENTRE MÉDITERRANÉEN DE MÉDECINE MOLÉCULAIRE C3M   (France)

^e UNIVERSITÉ D'ANGERS   (France)

^f ANGERS UNIVERSITY HOSPITAL   (France)

^g INSERM   (France)

Author keywords

Exome sequencing; GM3 synthase; Mitochondrial disease; Refractory epilepsy; Respiratory chain

Indexed keywords

GANGLIOSIDE GM3; GLOBOSIDE; GM3 SYNTHASE; LACTOSYLCERAMIDE; SYNTHETASE; UNCLASSIFIED DRUG;

APOPTOSIS; ARTICLE; BLINDNESS; CASE REPORT; CATALYST; CHILD; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; EPILEPSY; FAILURE TO THRIVE; FIBROBLAST; GENE; HEARING IMPAIRMENT; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; LIVER; MASS SPECTROMETRY; MITOCHONDRIAL MEMBRANE POTENTIAL; NONSENSE MUTATION; POLAROGRAPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; RESPIRATORY FAILURE; SPECTROPHOTOMETRY; UPREGULATION;

ALKYL AND ARYL TRANSFERASES; ANNEXIN A5; BASE SEQUENCE; BRAIN; CELLS, CULTURED; CHILD; EPILEPSY; EXOME; FIBROBLASTS; GLOBOSIDES; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MASS SPECTROMETRY; MEMBRANE POTENTIAL, MITOCHONDRIAL; MICROSATELLITE REPEATS; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SIALYLTRANSFERASES; SPECTROPHOTOMETRY;

EID: 84876693896     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.202     Document Type: Article

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