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Article

Variety of symptoms of GLUT1 deficiency syndrome in three-generation family.

Epilepsy & behavior : E&B - 1 May 2020

Winczewska-Wiktor Anna, Hoffman-Zacharska Dorota, Starczewska Monika, Kaczmarek Izabela, Badura-Stronka Magdalena, Steinborn Barbara

Abstract excerpt

OBJECTIVE: Glucose transporter type 1 deficiency (G1D) syndrome is generally a genetic disorder because of a mutation of the SLC2A1 gene. The clinical picture of G1D is heterogeneous. The aim of this paper was to present the case of G1D, recognized in a three-generation family, caused by missense mutation p.Arg92Trp in SLC2A1 gene, and showing high clinical heterogeneity and evolution of symptoms over time....

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Identifiers

PMID: 32247176
DOI: 10.1016/j.yebeh.2020.107036

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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