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Article

The role of molecular analysis of SLC2A1 in the diagnostic workup of glucose transporter 1 deficiency syndrome.

Journal of the neurological sciences - 15 Sept 2020

Takahashi Satoru, Tanaka Ryosuke, Takeguchi Ryo, Kuroda Mami, Akaba Yuichi, Ito Yasushi

Abstract excerpt

The study aimed to investigate the role of molecular analysis of SLC2A1 in the diagnostic workup of glucose transporter 1 deficiency syndrome (Glut1DS). During 2006-2020, we received 100 requests for SLC2A1 variant analysis of patients clinically suspected for Glut1DS. Pathogenic variants were detected in 37 patients, among whom 11 were familial cases. Most patients presented with epilepsy (n = 31; 84%), movement...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32712428
DOI: 10.1016/j.jns.2020.117041

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