GLUT-1 deficiency without epilepsy-an exceptional case

Author:

Overweg-Plandsoen W. C. G.12,Groener J. E. M.3,Wang D.4,Onkenhout W.3,Brouwer O. F.5,Bakker H. D.6,De Vivo D. C.4

Affiliation:

1. ; Department of Paediatric Neurology; Leiden University Medical Centre; Leiden The Netherlands

2. ; Department of Neurology; Leiden University Medical Centre; PO Box 9600, K5-Q, 110 Leiden 2300 RC The Netherlands

3. ; Department of Paediatrics; Leiden University Medical Centre; Leiden The Netherlands

4. ; Columbia - Presbyterian Medical Center; The Neurological Institute; New York NY USA

5. ; Department of Neurology; Gröningen University Hospital; Groningen

6. ; Academic Medical Centre; Emma Children's Hospital AMC; Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference12 articles.

Cited by 54 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review;European Journal of Pediatrics;2024-07-02

2. Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome;Annals of Clinical and Translational Neurology;2023-03-31

3. Disorders of Carbohydrate Metabolism;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2021

4. Episodic Ataxias: Faux or Real?;International Journal of Molecular Sciences;2020-09-05

5. Glucose transporter type I deficiency and other glucose flux disorders;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020

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