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Article

Sporadic and familial glut1ds Italian patients: A wide clinical variability.

Seizure - 1 Jan 2015

De Giorgis Valentina, Teutonico Federica, Cereda Cristina, Balottin Umberto, Bianchi Marika, Giordano Lucio, Olivotto Sara, Ragona Francesca, Tagliabue Anna, Zorzi Giovanna, Nardocci Nardo, Veggiotti Pierangelo

Abstract excerpt

PURPOSE: GLUT1 deficiency syndrome is a treatable neurological disorder characterized by developmental delay, movement disorders and epilepsy. It is caused by mutations in the SLC2A1 gene inherited as an autosomal dominant trait with complete penetrance, even if most detected SCL2A1 mutations are de novo. Our aim is to present a wide series of Italian patients to highlight the differences among subjects with de...

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Identifiers

PMID: 25564316
DOI: 10.1016/j.seizure.2014.11.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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