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No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome–Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3

The facilitative glucose transporter-1 (GLUT1) deficiency or de Vivo syndrome is a rare neuropediatric disorder characterized by drug-resistant epilepsy, acquired microcephaly, delayed psychomotor development, intermittent ataxia, and other paroxysmal neurological disorders due to the presence of do...

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Bibliografiske detaljer
Main Authors: Bizec, C. Le, Nicole, S., Panagiotakaki, E., Seta, N., Vuillaumier-Barrot, S.
Format: Artigo
Sprog:Inglês
Udgivet: Springer International Publishing 2013
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3897803/
https://ncbi.nlm.nih.gov/pubmed/24002817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_253
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