Glut1 deficiency: When to suspect and how to diagnose?

European Journal of Paediatric Neurology

Volumn 16, Issue 1, 2012, Pages 3-9

  Verrotti, A ^a   D'Egidio, C ^a   Agostinelli, S ^a   Gobbi, G ^b  

^a UNIVERSITY OF CHIETI   (Italy)

^b MAGGIORE HOSPITAL   (Italy)

Author keywords

Deficiency syndrome; GLUT1

Indexed keywords

GLUCOSE; GLUCOSE TRANSPORTER 1;

ARTICLE; ATAXIA; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD BRAIN BARRIER; CEREBROSPINAL FLUID LEVEL; CHILD; DIAGNOSTIC PROCEDURE; DYSKINESIA; ELECTROENCEPHALOGRAM; EPILEPSY; ERYTHROCYTE; GENE; GENE MUTATION; GLUCOSE TRANSPORT; GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY; GLUT1 GENE; HETEROZYGOSITY; HUMAN; HYPOGLYCEMIA; IMMUNOREACTIVITY; KETOGENIC DIET; LABORATORY DIAGNOSIS; LUMBAR PUNCTURE; MICROCEPHALY; NEUROIMAGING; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; SPASTICITY;

EID: 84655161382     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2011.09.005     Document Type: Review

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