Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Uta Lässker"'
Autor:
C. Bretscher, F. Kampfer, Orvar Eeg-Olofsson, B. Himmelein, K. Moldenhauer, C. Wadelius, B. Fiedler, G. Schwabe, S. Weise, D. Tams, Uta Lässker, Gerhard Kurlemann, Bernd A. Neubauer, Kristina Tedroff, Ulrich Stephani, I. Spanier
Publikováno v:
Karolinska Institutet
Objective: To localize a gene predisposing to benign epilepsy of childhood with centrotemporal spikes (BECTS). Background: BECTS, or rolandic epilepsy, is the most prevalent idiopathic epilepsy syndrome in childhood. Functional relevant defects in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e705c7e01b1af5276a1062a4ac4a3882
https://doi.org/10.1212/wnl.51.6.1608
https://doi.org/10.1212/wnl.51.6.1608
Autor:
Adelbert A. Roscher, Patrick J. Wightman, René Santer, Uta Lässker, David R. FitzPatrick, Bernhard Olgemöller, Ralph Fingerhut
Publikováno v:
Clinical chemistry. 49(4)
Malonic aciduria (OMIM 248360) is a rarely diagnosed autosomal-recessive inborn error of metabolism caused by congenital deficiency of malonyl-CoA decarboxylase (MCD; EC 4.1.1.9). Hypoglycemia, seizures, developmental delay, and cardiomyopathy are am
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4276b217453aeb35ea92c54320cad00
https://pubmed.ncbi.nlm.nih.gov/12651823
https://pubmed.ncbi.nlm.nih.gov/12651823
Publikováno v:
Epilepsia. 38(7)
Summary: Purpose: The electroencephalographic hallmark of benign childhood epilepsy with centrotemporal spikes (BECTS, or rolandic epilepsy) are characteristically shaped centrotemporal spikes and sharp waves (CTS). This EEG trait, but not BECTS itse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bcf6a6387c8e9aa951c64c895e948d1
https://pubmed.ncbi.nlm.nih.gov/9579905
https://pubmed.ncbi.nlm.nih.gov/9579905