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La protéine GLUT-1 est le principal transporteur du glucose au travers de la barrière hématoencéphalique. Son déficit est à l’origine d’un syndrome associant une épilepsie pharmacorésistante de début précoce, un retard psychomoteur avec microcéphalie acquise et des signes pyramidaux, extrapyramidaux et cérébelleux. Le diagnostic repose sur l’existence d’une hypoglycorachie avec un rapport de concentration...
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