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Article

GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype.

Epilepsy & behavior : E&B - 1 May 2017

Ramm-Pettersen Anette, Nakken Karl O, Haavardsholm Kathrine C, Selmer Kaja Kristine

Abstract excerpt

INTRODUCTION: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare metabolic encephalopathy with a wide variation of clinical phenotypes. Familial variants are often milder than de novo cases, and may therefore remain undiagnosed. The aim of this study was to characterize the clinical course of GLUT1-DS in a four-generation Norwegian family where the oldest generations had never received any...

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PMID: 28407523
DOI: 10.1016/j.yebeh.2017.02.016

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