Glucose Transporter Type 1 Deficiency Syndrome: Developmental Delay and Early-Onset Ataxia in a Novel Mutation of the SLC2A1 Gene

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) was first described by De Vivo in 1991, and the classic clinical manifestations include infantile epilepsy, developmental delay, and acquired microcephaly. A neurological complex disorder including elements of hypotonia, spasticity, ataxia, a...

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Bibliografiske detaljer
Udgivet i:J Pediatr Neurosci
Main Authors: Messana, Tullio, Russo, Angelo, Vergaro, Raffaella, Boni, Antonella, Santucci, Margherita, Pini, Antonella
Format: Artigo
Sprog:Inglês
Udgivet: Medknow Publications & Media Pvt Ltd 2018
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6413611/
https://ncbi.nlm.nih.gov/pubmed/30937099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/JPN.JPN_169_17
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