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Article

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

American journal of human genetics - 4 May 2017

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

Abstract excerpt

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-exome sequencing, we identified rare homozygous missense variants (c.526C>T [p.Arg176Trp] and c.629C>T [p.Ala210Val]) in...

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PMID: 28434495
DOI: 10.1016/j.ajhg.2017.03.009
PMCID: PMC5420346

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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