TY  - GEN
AU  - Fragaki,Konstantina
AU  - Ait-El-Mkadem,Samira
AU  - Chaussenot,Annabelle
AU  - Gire,Catherine
AU  - Mengual,Raymond
AU  - Bonesso,Laurent
AU  - Bénéteau,Marie
AU  - Ricci,Jean-Ehrland
AU  - Desquiret-Dumas,Valérie
AU  - Procaccio,Vincent
AU  - Rötig,Agnès
AU  - Paquis-Flucklinger,Véronique
TI  - Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency
SN  - 1476-5438
PY  - 2013///1017
KW  - Alkyl and Aryl Transferases
KW  - genetics
KW  - Annexin A5
KW  - metabolism
KW  - Base Sequence
KW  - Brain
KW  - pathology
KW  - Cells, Cultured
KW  - Child
KW  - Epilepsy
KW  - Exome
KW  - Fibroblasts
KW  - Globosides
KW  - Humans
KW  - Infant
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mass Spectrometry
KW  - Membrane Potential, Mitochondrial
KW  - physiology
KW  - Microsatellite Repeats
KW  - Mitochondrial Diseases
KW  - Molecular Sequence Data
KW  - Pedigree
KW  - Polymerase Chain Reaction
KW  - Sequence Analysis, DNA
KW  - Sialyltransferases
KW  - deficiency
KW  - Spectrophotometry
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1038/ejhg.2012.202
ER  -