GLUT1 deficiency syndrome 2013: Current state of the art

Seizure

Volumn 22, Issue 10, 2013, Pages 803-811

  De Giorgis, Valentina ^a   Veggiotti, Pierangelo ^a  

^a C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

Author keywords

Epilepsy; GLUT1DS; Ketogenic diet; Lumbar puncture; Movement disorder; SLC2A1 gene

Indexed keywords

3 METHYLGLUCOSE; ACETAZOLAMIDE; ANTICONVULSIVE AGENT; GLUCOSE TRANSPORTER 1; OXCARBAZEPINE; TRIHEPTANOIN;

ANTICONVULSANT THERAPY; BENIGN CHILDHOOD EPILEPSY; CARNITINE PALMITOIYLTRANSFERASE II DEFICIENCY; CHILDHOOD ABSENCE EPILEPSY; COGNITIVE DEFECT; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; DYSARTHRIA; DYSKINESIA; EARLY DIAGNOSIS; ELECTROENCEPHALOGRAPHY; ENZYME DEFICIENCY; EPILEPSY; EPILEPTIC STATE; ERYTHROCYTE; FEVER; FOLLOW UP; GENERALIZED EPILEPSY; GLUCOSE TRANSPORT; GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME; HEMOLYTIC ANEMIA; HUMAN; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; INTRACTABLE EPILEPSY; KETOGENIC DIET; LANGUAGE DELAY; LEARNING DISORDER; LUMBAR PUNCTURE; METABOLIC DISORDER; MICROCEPHALY; MOTOR DYSFUNCTION; MYOCLONIC ASTATIC EPILEPSY; MYOCLONUS EPILEPSY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; PYRUVATE CARBOXYLASE DEFICIENCY; REVIEW; SEIZURE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; TONIC CLONIC SEIZURE;

EPILEPSY; GLUT1DS; KETOGENIC DIET; LUMBAR PUNCTURE; MOVEMENT DISORDER; SLC2A1 GENE;

CARBOHYDRATE METABOLISM, INBORN ERRORS; GLUCOSE TRANSPORTER TYPE 1; HUMANS; KETOGENIC DIET; MONOSACCHARIDE TRANSPORT PROTEINS;

EID: 84888201220     PISSN: 10591311     EISSN: 15322688     Source Type: Journal    
DOI: 10.1016/j.seizure.2013.07.003     Document Type: Review

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