Childhood absence epilepsy as a manifestation of GLUT1 deficiency

Annals of Neurology

Volumn 67, Issue 2, 2010, Pages 272-273

  Rotstein, Michael ^a   De Vivo, Darryl C ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; GLUCOSE; GLUCOSE TRANSPORTER 1;

ABSENCE; CEREBROSPINAL FLUID LEVEL; CHILDHOOD DISEASE; CLINICAL FEATURE; ERYTHROCYTE; GENE MUTATION; GENE SEQUENCE; GLUCOSE BLOOD LEVEL; GLUCOSE TRANSPORT; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; HUMAN; LETTER; LUMBAR PUNCTURE; PHENOTYPE; PRIORITY JOURNAL; SYNDROME;

EPILEPSY, ABSENCE; EXCITATORY AMINO ACID TRANSPORTER 2; HUMANS;

EID: 77949358063     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.21963     Document Type: Letter

References (5)

1. Suls A, Mullen SA, Weber YG, et al. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol 2009;66:415-419.
2. De Vivo DC, Trifiletti RR, Jacobson RI, et al. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 1991;325:703-709.
3. Leary LD, Wang D, Nordli DR Jr, et al. Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. Epilepsia 2003;44:701-707.
4. De Vivo DC, Wang D. Glut1 deficiency: CSF glucose. How low is too low? Rev Neurol (Paris) 2008;164:877-880.
5. Suls A, Dedeken P, Goffin K, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 2008;131:1831-1844.