Clinical spectrum of STX1B-related epileptic disorders

Autor: Wolking, S, May, P, Mei, D, Møller, RS, Balestrini, S, Helbig, KL, Altuzarra, CD, Chatron, N, Kaiwar, C, Stöhr, K, Widdess-Walsh, P, Mendelsohn, BA, Numis, A, Cilio, MR, Van Paesschen, W, Svendsen, LL, Oates, S, Hughes, E, Goyal, S, Brown, K, Saenz, M, Dorn, T, Muhle, H, Pagnamenta, AT, Vavoulis, DV, Knight, SJL, Taylor, JC, Canevini, MP, Darra, F, Gavrilova, RH, Powis, Z, Tang, S, Marquetand, J, Armstrong, M, McHale, D, Klee, EW, Kluger, GJ, Lowenstein, DH, Weckhuysen, S, Pal, DK, Helbig, I, Guerrini, R, Thomas, RH, Rees, MI, Lesca, G, Sisodiya, SM, Weber, YG, Lal, D, Marini, C, Lerche, H, Schubert, J

Publikováno v: Wolking, S, May, P, Mei, D, Møller, R S, Balestrini, S, Helbig, K L, Altuzarra, C D, Chatron, N, Kaiwar, C, Stöhr, K, Widdess-Walsh, P, Mendelsohn, B A, Numis, A, Cilio, M R, Van Paesschen, W, Svendsen, L L, Oates, S, Hughes, E, Goyal, S, Brown, K, Sifuentes Saenz, M, Dorn, T, Muhle, H, Pagnamenta, A T, Vavoulis, D V, Knight, S J L, Taylor, J C, Canevini, M P, Darra, F, Gavrilova, R H, Powis, Z, Tang, S, Marquetand, J, Armstrong, M, McHale, D, Klee, E W, Kluger, G J, Lowenstein, D H, Weckhuysen, S, Pal, D K, Helbig, I, Guerrini, R, Thomas, R H, Rees, M I, Lesca, G, Sisodiya, S M, Weber, Y G, Lal, D, Marini, C, Lerche, H & Schubert, J 2019, ' Clinical spectrum of STX1B-related epileptic disorders ', Neurology, vol. 92, no. 11, pp. e1238-e1249 . https://doi.org/10.1212/WNL.0000000000007089
Neurology

OBJECTIVE: The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants. METHODS:

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::64082d157eff5d0457b6e34c87e55deb
http://ora.ox.ac.uk/objects/uuid:

Urban surface water quality and the potential of phytoremediation to improve water quality in peri-urban and urban areas in sub-Saharan Africa – a review

Autor: Bastian Schnabel, Sam Wright, Rees Miller, Lee D. Bryant, Thomas R. Kjeldsen, Roy Maconachie, Solomon P. Gbanie, Kabba S. Bangura, Anthony J. Kamara

Publikováno v: Water Supply, Vol 22, Iss 11, Pp 8372-8404 (2022)

In 2017, 400 million people in sub-Saharan Africa (SSA) were still using unimproved drinking water sources, 80 million of whom relied on untreated surface water. Urban areas are vastly expanding all over the continent and many larger cities in SSA st

Externí odkaz: https://doaj.org/article/3a4ca67c37b9470c9af80fb77f929249

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