Rare and Treatable Cause of Early-Onset Refractory Absence Seizures

Glut-1 transporter deficiency syndrome (GLUT1-DS) is a rare disorder caused by the mutation in SLC2A1 gene, which results in impaired glucose transport into the brain. It has a broad spectrum of phenotypic presentation ranging from cognitive decline, microcephaly, and refractory seizures to complex...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Pediatr Neurosci
Prif Awduron: Panandikar, Gajanan A., Ravat, Sangeeta H., Ansari, Rahil R., Desai, Karan M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Medknow Publications & Media Pvt Ltd 2018
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6144597/
https://ncbi.nlm.nih.gov/pubmed/30271476
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/JPN.JPN_146_17
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