Article
[GLUT-1 deficiency syndrome or De Vivo disease: a case report].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Aug 2008
Ticus I, Cano A, Villeneuve N, Milh M, Mancini J, Chabrol B
Abstract excerpt
GLUT-1 protein is the principal glucose transporter across the blood-brain barrier. GLUT-1 deficiency results in a syndrome of infantile seizures refractory to anticonvulsive drugs, developmental delay, acquired microcephaly and neurologic manifestations including spasticity, hypotonia, and ataxia. A low cerebrospinal fluid glucose concentration in the absence of hypoglycaemia is pathognomonic of glucose...
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