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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

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