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Article

Evaluation of GLUT1 variation in non-acquired focal epilepsy.

Epilepsy research - 1 Jul 2017

Peeraer Alexander, Damiano John A, Bellows Susannah T, Scheffer Ingrid E, Berkovic Samuel F, Mullen Saul A, Hildebrand Michael S

Abstract excerpt

Brain glucose transport is dependent on glucose transporter 1 (GLUT1), encoded by the solute carrier family 2 member 1 (SLC2A1) gene. Mutations in SLC2A1 cause GLUT1 deficiency which is characterized by a broad spectrum of neurological phenotypes including generalized epilepsy, motor disorders, developmental delay and microcephaly. Recent case reports suggest SLC2A1 mutations can contribute to non-acquired focal...

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Identifiers

PMID: 28419980
DOI: 10.1016/j.eplepsyres.2017.04.007

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

Source receipt: pubmed, retrieved 5 Sept 2026.

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