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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Bibliografiske detaljer
Udgivet i: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.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2017
Fag:
Report
Online adgang: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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