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| Pediatric Neurology Briefs: Volume 29, Issue 02 |
Clinical Variability of GLUT1DS Open Access (recommended)
Descriptions
- Resource type(s)
- Article
- Keyword
- Ketogenic diet
Epilepsy
SLC2A1 gene
Paroxysmal exercise-induced dyskinesia
GLUT1 deficiency syndrome
- Rights
- Attribution 4.0 International
- Creator
-
Melnikova, Anastasia Martinez-Esteve
Korff, Christian M.
- Abstract
-
Investigators from Pavia, Rho, Brescia and Milan, Italy, studied 22 patients diagnosed with GLUT1 deficiency syndrome (GLUT1DS) to document clinical or genetic differences between patients with familial SLC2A1 gene mutations (n=11) and those with sporadic mutations (n=11).
- Publisher
-
DigitalHub. Galter Health Sciences Library
Pediatric Neurology Briefs Publishers
- Date Created
-
2015
- Original Identifier
- PNB-29-14
- Language
- English
- Subject: MESH
-
Neurology
Pediatrics
Child Development
Brain Diseases
Nervous System Diseases
Infant
Neurosurgery
Child
- DOI
-
10.15844/pedneurbriefs-29-2-5
File Details
- File Properties
-
Mime type: application/pdf
File size: 129.7 kB