Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.A155V
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SLC2A1

NM_006516.4:p.A155V

Associated Papers

D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS).

Amer A et al.

Jimd Reports, 2025

Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.

Daci A et al.

International Journal of Molecular Sciences, 2018

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1

Milder phenotypes of glucose transporter type 1 deficiency syndrome.

Anand G et al.

Developmental Medicine and Child Neurology, 2011

Refractory absence epilepsy associated with GLUT-1 deficiency syndrome.

Byrne S et al.

Epilepsia, 2011

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Leen WG et al.

Brain : a Journal of Neurology, 2010

Clinical and genetic analysis of children with glucose transporter type 1 deficiency syndrome.

Qian H et al.

Medicine International, 0

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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."