Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene
Author:
Publisher
Elsevier BV
Subject
Behavioral Neuroscience,Neurology (clinical),Neurology
Reference16 articles.
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2. Autosomal recessive inheritance of GLUT1 deficiency syndrome;Klepper;Neuropediatrics,2009
3. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder;Leen;Brain,2010
4. GLUT1 deficiency syndrome—2007 update;Klepper;Dev Med Child Neurol,2007
5. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1;Suls;Ann Neurol,2009
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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. Role of EEG as a monitoring tool in patients with glucose transporter type I deficiency syndrome (GLUT1‐DS) on ketogenic diet;Epileptic Disorders;2023-05-06
3. Clinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy;Seizure;2023-02
4. Effect of the R126C mutation on the structure and function of the glucose transporter GLUT1: A molecular dynamics simulation study;Journal of Molecular Graphics and Modelling;2022-11
5. Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature;International Journal of Molecular Sciences;2021-05-25
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