Clinical and instrumental gait phenotyping in people with GLUT-1 deficiency syndrome.

doi:10.1016/j.gaitpost.2025.07.326

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Article

Clinical and instrumental gait phenotyping in people with GLUT-1 deficiency syndrome.

Gait & posture - 1 Oct 2025

Corrado Michele, Vacchini Valeria, Celario Massimiliano, Varesio Costanza, Brancaccio Carla, Grillo Valentina, Cammarota Francescantonio, Bighiani Federico, Antoniazzi Alessandro, Agostini Beatrice, Vaghi Gloria, Martinis Luca, Campese Ilaria, Quaranta Carlo Alberto, Pasca Ludovica, Guglielmetti Monica, Valentino Francesca, Trabassi Dante, Castiglia Stefano Filippo, Serrao Mariano, Tassorelli Cristina, Borgatti Renato, De Giorgis Valentina, De Icco Roberto

Abstract excerpt

OBJECTIVES: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare neurometabolic disorder caused by mutations in the SLC2A1 gene. GLUT1-DS is characterized by epilepsy, cognitive impairment, movement disorders, and gait abnormalities. In the present study we aimed to characterize gait features of GLUT1-DS by means of gait analysis based on a single inertial measurement unit. METHODS: We conducted a...

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PMID: 40738011
DOI: 10.1016/j.gaitpost.2025.07.326

Genes

SLC2A1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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