Article
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
European journal of medical genetics - 1 Sept 2015
Hully Marie, Vuillaumier-Barrot Sandrine, Le Bizec Christiane, Boddaert Nathalie, Kaminska Anna, Lascelles Karine, de Lonlay Pascale, Cances Claude, des Portes Vincent, Roubertie Agathe, Doummar Diane, LeBihannic Anne, Degos Bertrand, de Saint Martin Anne, Flori Elisabeth, Pedespan Jean Michel, Goldenberg Alice, Vanhulle Catherine, Bekri Soumeya, Roubergue Anne, Heron Bénédicte, Cournelle Marie-Anne, Kuster Alice, Chenouard Alexis, Loiseau Marie-Noelle, Valayannopoulos Vassili, Chemaly Nicole, Gitiaux Cyril, Seta Nathalie, Bahi-Buisson Nadia
Abstract excerpt
INTRODUCTION: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare genetic disorder due to mutations or deletions in SLC2A1, resulting in impaired glucose uptake through the blood brain barrier. The classic phenotype includes pharmacoresistant epilepsy, intellectual deficiency, microcephaly and complex movement disorders, with hypoglycorrhachia, but milder phenotypes have been described...
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