Lessons learned from 40 novel PIGA patients and a review of the literature

Autor: Martin R. Larsen, Shiva Ganesan, Tobias Brünger, Nicolas Chassaing, Caroline Nava, Renzo Guerrini, Kim L. McBride, Anneke Kievit, Elena Parrini, Dennis Lal, Lisbeth Tranebjærg, Christel Depienne, Aleksandra Jezela-Stanek, Matthew Pastore, Carolina Fischinger Moura de Souza, Berten Ceulemans, Hannah Moore, Peter Krawitz, Gaetan Lesca, Ingo Helbig, Valerie Layet, Friedrich Bosch, Alexandra Afenjar, Rikke S. Møller, Carlos Ferreira, Sophie Naudion, Milda Endziniene, Alexej Knaus, Lilian Bomme Ousager, Marie-Christine Nougues, Caroline Karsenty, Johanne Kragh Hansen, Allan Bayat, Elena Gardella, Anne-Marie Guerrot, Marije Meuwissen, Tahsin Stefan Barakat, Mads Thomassen, Patrick Calvas, F Kooy, Jurgen H Schelhaas, Svetlana Gataullina, Lynne A. Wolfe, Bert Callewaert, Ashley Thomas, Steven A. Skinner, Lars Hansen, Manuela Pendziwiat, Cécile Freihuber, Cyril Mignot, Krzysztoł Szczałuba, Marjon van Slegtenhorst, Martino Montomoli, Christian Korff

Publikováno v: Epilepsia
Epilepsia, 61(6), 1142-1155. Wiley-Blackwell Publishing Ltd
Bayat, A, Knaus, A, Pendziwiat, M, Afenjar, A, Stefan Barakat, T, Bosch, F, Callewaert, B, Calvas, P, Ceulemans, B, Chassaing, N, Depienne, C, Endziniene, M, Ferreira, C R, Moura de Souza, C F, Freihuber, C, Ganesan, S, Gataullina, S, Guerrini, R, Guerrot, A-M, Hansen, L, Jezela-Stanek, A, Karsenty, C, Kievit, A, Kooy, F R, Korff, C M, Kragh Hansen, J, Larsen, M, Layet, V, Lesca, G, McBride, K L, Meuwissen, M, Mignot, C, Montomoli, M, Moore, H, Naudion, S, Nava, C, Nougues, M-C, Parrini, E, Pastore, M, Schelhaas, J H, Skinner, S, Szczałuba, K, Thomas, A, Thomassen, M, Tranebjaerg, L, van Slegtenhorst, M, Wolfe, L A, Lal, D, Gardella, E, Bomme Ousager, L, Brünger, T, Helbig, I, Krawitz, P & Møller, R S 2020, ' Lessons learned from 40 novel PIGA patients and a review of the literature ', Epilepsia, vol. 61, no. 6, pp. 1142-1155 . https://doi.org/10.1111/epi.16545

OBJECTIVE: To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA)-related congenital disorder of glycosylation (PIGA-CDG) and evaluate genotype-phenotype correlations.METHODS: Our cohort encompasses 40 affected males

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ba27e2d50f92ed752b1a8fec4f4989b
https://doi.org/10.1111/epi.16545

Patients with

Autor: Marion, Aubert Mucca, Olivier, Patat, Sandra, Whalen, Lionel, Arnaud, Giulia, Barcia, Julien, Buratti, Benjamin, Cogné, Diane, Doummar, Caroline, Karsenty, Sandra, Kenis, Eric, Leguern, Gaetan, Lesca, Caroline, Nava, Mathilde, Nizon, Amelie, Piton, Stéphanie, Valence, Laurent, Villard, Sarah, Weckhuysen, Boris, Keren, Cyril, Mignot

Publikováno v: Journal of medical genetics. 59(5)

De novo missense variants in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::077a9a2d7324adafa2a7d05d0d10996a
https://pubmed.ncbi.nlm.nih.gov/33811134

Neurodevelopmental outcome in children between one and five years after persistent pulmonary hypertension of term and near-term newborns.

Autor: Atlan, Laetitia, Berthomieu, Lionel, Karsenty, Caroline, Gascoin, Géraldine, Arnaud, Catherine, Breinig, Sophie

Publikováno v: Frontiers in Pediatrics; 2024, p1-13, 13p

Patients with KCNH1- related intellectual disability without distinctive features of ZimmermannLaband/Temple- Baraitser syndrome.

Autor: Mucca, Marion Aubert, Patat, Olivier, Whalen, Sandra, Arnaud, Lionel, Barcia, Giulia, Buratti, Julien, Cogné, Benjamin, Doummar, Diane, Karsenty, Caroline, Kenis, Sandra, Leguern, Eric, Lesca, Gaetan, Nava, Caroline, Nizon, Mathilde, Piton, Amelie, Valence, Stéphanie, Villard, Laurent, Weckhuysen, Sarah, Keren, Boris, Mignot, Cyril

Publikováno v: Journal of Medical Genetics; May2022, Vol. 59 Issue 5, p505-510, 6p