Development of a rapid functional assay that predicts GLUT1 disease severity

OBJECTIVE: To examine the genotype to phenotype connection in glucose transporter type 1 (GLUT1) deficiency and whether a simple functional assay can predict disease outcome from genetic sequence alone. METHODS: GLUT1 deficiency, due to mutations in SLC2A1, causes a wide range of epilepsies. One pos...

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Detalles Bibliográficos
Autores principales: Zaman, Sasha M., Mullen, Saul A., Petrovski, Slavé, Maljevic, Snezana, Gazina, Elena V., Phillips, A. Marie, Jones, Gabriel Davis, Hildebrand, Michael S., Damiano, John, Auvin, Stéphane, Lerche, Holger, Weber, Yvonne G., Berkovic, Samuel F., Scheffer, Ingrid E., Reid, Christopher A., Petrou, Steven
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290489/
https://www.ncbi.nlm.nih.gov/pubmed/30588498
http://dx.doi.org/10.1212/NXG.0000000000000297

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290489/
https://www.ncbi.nlm.nih.gov/pubmed/30588498
http://dx.doi.org/10.1212/NXG.0000000000000297

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