Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy

Glucose transport across the blood brain barrier and into neural cells is critical for normal cerebral physiologic function. Dysfunction of the cerebral glucose transporter GLUT1 (encoded by SLC2A1) is known to result in epilepsy, intellectual disability (ID), and movement disorder. Using whole-exom...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Srour, Myriam, Shimokawa, Noriaki, Hamdan, Fadi F., Nassif, Christina, Poulin, Chantal, Al Gazali, Lihadh, Rosenfeld, Jill A., Koibuchi, Noriyuki, Rouleau, Guy A., Al Shamsi, Aisha, Michaud, Jacques L.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5420346/
https://ncbi.nlm.nih.gov/pubmed/28434495
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.03.009
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