Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan

Brain and Development

Volumn 27, Issue 4, 2005, Pages 311-317

  Ito, Yasushi ^a   Gertsen, Elena ^b   Oguni, Hirokazu ^a   Nakayama, Tomohiro ^a   Matsuo, Mari ^a   Funatsuka, Makoto ^a   Voit, Thomas ^b   Klepper, Jörg ^b   Osawa, Makiko ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

Epilepsy; GLUT1 deficiency syndrome; Hypoglycorrhachia; Ketogenic diet; Neurological deterioration; Postprandial EEG analysis

Indexed keywords

3 METHYLGLUCOSE; GLUCOSE;

ARTICLE; CASE REPORT; CEREBELLAR ATAXIA; CEREBROSPINAL FLUID LEVEL; CLINICAL FEATURE; DETERIORATION; DISEASE SEVERITY; DISORDERS OF CARBOHYDRATE METABOLISM; ELECTROENCEPHALOGRAM; EPILEPSY; ERYTHROCYTE; EXON; GENE MUTATION; GENETIC DISORDER; GLUCOSE BLOOD LEVEL; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; HETEROZYGOSITY; HUMAN; HYPOGLYCORRHACHIA; KETOGENIC DIET; MALE; MENTAL DEFICIENCY; MYOCLONUS SEIZURE; POSTPRANDIAL STATE; PROTEIN DEFICIENCY; SCHOOL CHILD; SPASTICITY; WAKEFULNESS;

EID: 18044384815     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2004.09.010     Document Type: Article

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