From splitting GLUT1 deficiency syndromes to overlapping phenotypes

Autor: Alexis Chenouard, Nathalie Seta, Nadia Bahi-Buisson, Marie-Anne Cournelle, Soumeya Bekri, Karine Lascelles, Anne de Saint Martin, Marie-Noelle Loiseau, Marie Hully, Nicole Chemaly, Bertrand Degos, Vassili Valayannopoulos, Claude Cances, Christiane Le Bizec, Anne LeBihannic, A Roubergue, Sandrine Vuillaumier-Barrot, Diane Doummar, Anna Kaminska, Vincent des Portes, Bénédicte Héron, Pascale de Lonlay, Alice Kuster, Alice Goldenberg, Jean Michel Pedespan, Elisabeth Flori, Catherine Vanhulle, Agathe Roubertie, Cyril Gitiaux, Nathalie Boddaert

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2015, 58 (9), pp.443-54. ⟨10.1016/j.ejmg.2015.06.007⟩

International audience; 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 phenot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1e46a8dc25ae0381587ad2ae8fc7d73
https://pubmed.ncbi.nlm.nih.gov/26193382