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Article

Refractory absence epilepsy and glut1 deficiency syndrome: a new case report and literature review.

Neuropediatrics - 1 Oct 2014

Ragona Francesca, Matricardi Sara, Castellotti Barbara, Patrini Mara, Freri Elena, Binelli Simona, Granata Tiziana

Abstract excerpt

We report a 12-year-old female patient with a mild phenotype of glucose transporter type 1 deficiency syndrome (Glut1D). The clinical picture was characterized by refractory absence epilepsy, migraine, and learning disabilities. Absence seizures appeared at the age of 4 years, and electroencephalogram (EEG) showed irregular discharges of diffuse epileptic abnormalities. During the follow-up, seizures became drug...

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PMID: 24892788
DOI: 10.1055/s-0034-1378130

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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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