Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy

Annals of Neurology

Volumn 50, Issue 4, 2001, Pages 476-485

  Brockmann, Knut ^a   Wang, Dong ^a   Korenke, Christoph G ^a   Von Moers, Arpad ^a   Ho, Yuan Yuan ^a   Pascual, Juan M ^a   Kuang, Kunyan ^a   Yang, Hong ^a   Li, M ^a   Kranz Eble, Pamela ^a   Fischbarg, Jorge ^a   Hanefeld, Folker ^a   De Vivo, Darryl C ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

3 METHYLGLUCOSE; ARGININE; GLUCOSE;

ARTICLE; ATAXIA; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EPILEPSY; FEMALE; GENOTYPE; GLUCOSE TRANSPORT SYSTEM; HUMAN; IMMUNOREACTIVITY; MALE; MISSENSE MUTATION; MUTAGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEIZURE; XENOPUS LAEVIS;

3-O-METHYLGLUCOSE; AMINO ACID SEQUENCE; ANIMALS; CHILD; DEVELOPMENTAL DISABILITIES; EPILEPSY; ERYTHROCYTES; FAMILY HEALTH; FEMALE; GENES, DOMINANT; GLUCOSE TRANSPORTER TYPE 1; HUMANS; INFANT, NEWBORN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION, MISSENSE; OOCYTES; PEDIGREE; XENOPUS LAEVIS;

EID: 0034785807     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.1222     Document Type: Article

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