Article
Milder phenotypes of glucose transporter type 1 deficiency syndrome.
Developmental medicine and child neurology - 1 Jul 2011
Anand Geetha, Padeniya Anuruddha, Hanrahan Donncha, Scheffer Hans, Zaiwalla Zenobia, Cox Debbie, Mann Nicholas, Hewertson John, Price Sue, Nemeth Andrea, Arsov Todor, Scheffer Ingrid, Jayawant Sandeep, Pike Michael, McShane Tony
Abstract excerpt
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a treatable condition resulting from impaired glucose transport into the brain. The classical presentation is with infantile-onset epilepsy and severe developmental delay. Non-classical phenotypes with movement disorders and early-onset absence epilepsy are increasingly recognized and the clinical spectrum is expanding. The hallmark is hypoglycorrhachia...
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