Moers, Arpad von

[["dc.bibliographiccitation.firstpage","476"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Annals of Neurology"],["dc.bibliographiccitation.lastpage","485"],["dc.bibliographiccitation.volume","50"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Wang, D."],["dc.contributor.author","Korenke, C. G."],["dc.contributor.author","von Moers, A."],["dc.contributor.author","Ho, Y. Y."],["dc.contributor.author","Pascual, J. M."],["dc.contributor.author","Kuang, K."],["dc.contributor.author","Yang, H."],["dc.contributor.author","Ma, L."],["dc.contributor.author","Kranz-Eble, P."],["dc.contributor.author","Fischbarg, J."],["dc.contributor.author","Hanefeld, Folker"],["dc.contributor.author","De Vivo, D. C."],["dc.date.accessioned","2018-11-07T08:33:30Z"],["dc.date.available","2018-11-07T08:33:30Z"],["dc.date.issued","2001"],["dc.description.abstract","Glut-l deficiency syndrome was first described in 1991 as a sporadic clinical condition, later shown to be the result of haploinsufficiency. We now report a family with Glut-l deficiency syndrome affecting 5 members over 3 generations. The syndrome behaves as an autosomal dominant condition. Affected family members manifested mild to severe seizures, developmental delay, ataxia, hypoglycorrhachia, and decreased erythrocyte 3-O-methyl-D-glucose uptake. Seizure frequency and severity were aggravated by fasting, and responded to a carbohydrate load. Glut-1 immunoreactivity in erythrocyte membranes was normal. A heterozygous R126H missense mutation was identified in the 3 patients available for testing, 2 brothers (Generation 3) and their mother (Generation 2). The sister and her father were clinically and genotypically normal. In vitro mutagenesis studies in Xenopus laevis oocytes demonstrated significant decreases in the transport of 3-O-methyl-D-glucose and dehydroascorbic acid. Xenopus oocyte membranes expressed high amounts of the R126H mutant Glut-1. Kinetic analysis indicated that replacement of arginine-126 by histidine in the mutant Glut-l resulted in a lower V-max. These studies demonstrate the pathogenicity of the R126H missense mutation and transmission of Glut-1 deficiency syndrome as an autosomal dominant trait."],["dc.identifier.doi","10.1002/ana.1222"],["dc.identifier.isi","000171402200009"],["dc.identifier.pmid","11603379"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/17590"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","0364-5134"],["dc.title","Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","941"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","Epilepsia"],["dc.bibliographiccitation.lastpage","945"],["dc.bibliographiccitation.volume","43"],["dc.contributor.author","von Moers, A."],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Wang, D."],["dc.contributor.author","Korenke, C. G."],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","De Vivo, D. C."],["dc.contributor.author","Hanefeld, Folker"],["dc.date.accessioned","2018-11-07T10:12:47Z"],["dc.date.available","2018-11-07T10:12:47Z"],["dc.date.issued","2002"],["dc.description.abstract","Purpose: Glut-1 deficiency syndrome (Glut-1 DS) is caused by the deficiency of the major glucose transporter in cerebral microvessels. Methods: We performed pre- and postprandial EEG recordings in two unrelated children with Glut-1 DS with developmental delay and seizures predominantly in the morning before breakfast. Results: Extensive epileptiform discharges observed in the fasting state were improved markedly by food intake, as documented in EEG recordings 1 and 2 h after a meal. The ratio of cerebrospinal fluid glucose to blood glucose was decreased in both children. Glut-1 deficiency was confirmed by biochemical and molecular genetic investigations. Conclusions: Pre- and postprandial EEG recordings offer a simple screening test for Glut-1 DS."],["dc.identifier.doi","10.1046/j.1528-1157.2002.50401.x"],["dc.identifier.isi","000177383900024"],["dc.identifier.pmid","12181017"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/40304"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Blackwell Publishing Inc"],["dc.relation.issn","0013-9580"],["dc.title","EEG features of Glut-1 deficiency syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]