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Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations.

作者信息

Di Vito Lidia, Licchetta Laura, Pippucci Tommaso, Baldassari Sara, Stipa Carlotta, Mostacci Barbara, Alvisi Lara, Tinuper Paolo, Bisulli Francesca

机构信息

IRCCS Institute of Neurological Sciences, Via Altura 3, 40137 Bologna, Italy.

IRCCS Institute of Neurological Sciences, Via Altura 3, 40137 Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

出版信息

Epilepsy Behav. 2018 Feb;79:169-173. doi: 10.1016/j.yebeh.2017.12.012. Epub 2018 Jan 4.

DOI:10.1016/j.yebeh.2017.12.012
PMID:29306089
Abstract
摘要

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引用本文的文献

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

Eur J Pediatr. 2024-9

[2]
Voluntary Behavior and Training Conditions Modulate Extracellular Glucose and Lactate in the Mouse Primary Motor Cortex.

Front Neurosci. 2022-1-4

[3]
Specifically Targeted Transport of Plasma Membrane Transporters: From Potential Mechanisms for Regulating Cell Health or Disease to Applications.

Membranes (Basel). 2021-9-27

[4]
Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report.

BMC Med Genomics. 2021-7-31

[5]
Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features.

Yonsei Med J. 2019-12

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