Clinical Variability of GLUT1DS

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).

Detalles Bibliográficos
Autores principales: Melnikova, Anastasia Martinez-Esteve, Korff, Christian M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pediatric Neurology Briefs Publishers 2015
Materias:
Seizure Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747289/
https://www.ncbi.nlm.nih.gov/pubmed/26933557
http://dx.doi.org/10.15844/pedneurbriefs-29-2-5
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author Melnikova, Anastasia Martinez-Esteve
Korff, Christian M.
author_facet Melnikova, Anastasia Martinez-Esteve
Korff, Christian M.
author_sort Melnikova, Anastasia Martinez-Esteve
collection PubMed
description 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).
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spelling pubmed-47472892016-03-01 Clinical Variability of GLUT1DS Melnikova, Anastasia Martinez-Esteve Korff, Christian M. Pediatr Neurol Briefs Seizure Disorders 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). Pediatric Neurology Briefs Publishers 2015-02 2015-02-25 /pmc/articles/PMC4747289/ /pubmed/26933557 http://dx.doi.org/10.15844/pedneurbriefs-29-2-5 Text en Copyright: © 2015 The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Seizure Disorders
Melnikova, Anastasia Martinez-Esteve
Korff, Christian M.
Clinical Variability of GLUT1DS
title Clinical Variability of GLUT1DS
title_full Clinical Variability of GLUT1DS
title_fullStr Clinical Variability of GLUT1DS
title_full_unstemmed Clinical Variability of GLUT1DS
title_short Clinical Variability of GLUT1DS
title_sort clinical variability of glut1ds
topic Seizure Disorders
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747289/
https://www.ncbi.nlm.nih.gov/pubmed/26933557
http://dx.doi.org/10.15844/pedneurbriefs-29-2-5
work_keys_str_mv AT melnikovaanastasiamartinezesteve clinicalvariabilityofglut1ds
AT korffchristianm clinicalvariabilityofglut1ds

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