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Article

The many faces of Glut1 deficiency syndrome.

Journal of child neurology - 1 Mar 2014

Tzadok Michal, Nissenkorn Andreea, Porper Keren, Matot Israel, Marcu Shai, Anikster Yair, Menascu Shay, Bercovich Dani, Ben Zeev Bruria

Abstract excerpt

Glucose transporter protein type 1 deficiency syndrome is a metabolic disorder manifesting as cognitive impairment, acquired microcephaly, epilepsy, and/or movement disorder caused by mutations in the SLC2A1 gene. We describe a cohort of isolated and familial cases of glucose transporter protein type 1 deficiency syndrome, emphasizing seizure semiology, electroencephalographic (EEG) features, treatment response...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23340081
DOI: 10.1177/0883073812471718

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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