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Article

Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes.

Epilepsia - 1 Sept 2012

Pong Amanda W, Geary Brianna R, Engelstad Kris M, Natarajan Ashwini, Yang Hong, De Vivo Darryl C

Abstract excerpt

PURPOSE: Glut 1 deficiency syndrome (DS) is defined by hypoglycorrhachia with normoglycemia, acquired microcephaly, episodic movements, and epilepsy refractory to standard antiepileptic drugs (AEDs). Gold standard treatment is the ketogenic diet (KD), which provides ketones to treat neuroglycopen...

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Source

Identifiers

PMID: 22812641
DOI: 10.1111/j.1528-1167.2012.03592.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22812641-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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