Phenotypic and genetic spectrum of ATP6V1A encephalopathy:a disorder of lysosomal homeostasis

Autor: Guerrini, R. (Renzo), Mei, D. (Davide), Kerti-Szigeti, K. (Katalin), Pepe, S. (Sara), Koenig, M. K. (Mary Kay), Von Allmen, G. (Gretchen), Cho, M. T. (Megan T), McDonald, K. (Kimberly), Baker, J. (Janice), Bhambhani, V. (Vikas), Powis, Z. (Zöe), Rodan, L. (Lance), Nabbout, R. (Rima), Barcia, G. (Giulia), Rosenfeld, J. A. (Jill A), Bacino, C. A. (Carlos A), Mignot, C. (Cyril), Power, L. H. (Lillian H), Harris, C. J. (Catharine J), Marjanovic, D. (Dragan), Møller, R. S. (Rikke S), Hammer, T. B. (Trine B), T. D. (The DDD Study), Keski Filppula, R. (Riikka), Vieira, P. (Päivi), Hildebrandt, C. (Clara), Sacharow, S. (Stephanie), U. D. (Undiagnosed Diseases Network), Maragliano, L. (Luca), Benfenati, F. (Fabio), Lachlan, K. (Katherine), Benneche, A. (Andreas), Petit, F. (Florence), de Sainte Agathe, J. M. (Jean Madeleine), Hallinan, B. (Barbara), Si, Y. (Yue), Wentzensen, I. M. (Ingrid M), Zou, F. (Fanggeng), Narayanan, V. (Vinodh), Matsumoto, N. (Naomichi), Boncristiano, A. (Alessandra), la Marca, G. (Giancarlo), Kato, M. (Mitsuhiro), Anderson, K. (Kristin), Barba, C. (Carmen), Sturiale, L. (Luisa), Garozzo, D. (Domenico), Bei, R. (Roberto), A. c. (ATP6V1A collaborators), Masuelli, L. (Laura), Conti, V. (Valerio), Novarino, G. (Gaia), Fassio, A. (Anna)

Vacuolar-type H⁺-ATPase (V-ATPase) is a multimeric complex present in a variety of cellular membranes that acts as an ATP-dependent proton pump and plays a key role in pH homeostasis and intracellular signalling pathways. In humans, 22 autosomal ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2423::3d87197087e6ddb6b11e6edcbbf5ae62
http://urn.fi/urn:nbn:fi-fe2023022728799

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:

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