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Article

Glut1 deficiency: when to suspect and how to diagnose?

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2012

Verrotti A, D'Egidio C, Agostinelli S, Gobbi G

Abstract excerpt

Impaired glucose transport across the blood-brain barrier results in GLUT1 deficiency syndrome (GLUT1-DS), characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and hypoglycorrhachia. A part from this classic phenotype, clinical conditions associated with a deficiency of GLUT1 are highly variable and several atypical variants have been described; in particular,...

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PMID: 21962875
DOI: 10.1016/j.ejpn.2011.09.005

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