Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.S313Y
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SLC2A1

NM_006516.4:p.S313Y

Associated Papers

The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.

Mastrangelo M et al.

European Journal of Pediatrics, 2024

38954008 (PubMed )
Supplement: 431_2024_5657_MOESM2_ESM.xlsx › Valutazione_varianti

Positive impact of a modified Atkins diet on cognition, seizure control, and abnormal movements in an adult with glucose transporter type 1 deficiency syndrome: case report.

Diaz-Arias LA et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder.

Graham JM

European Journal of Medical Genetics, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."