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Additional file 1 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Authors :
Cousin, Margot A.
Veale, Emma L.
Dsouza, Nikita R.
Tripathi, Swarnendu
Holden, Robyn G.
Arelin, Maria
Beek, Geoffrey
Bekheirnia, Mir Reza
Beygo, Jasmin
Bhambhani, Vikas
Bialer, Martin
Bigoni, Stefania
Boelman, Cyrus
Carmichael, Jenny
Courtin, Thomas
Cogne, Benjamin
Dabaj, Ivana
Doummar, Diane
Fazilleau, Laura
Ferlini, Alessandra
Gavrilova, Ralitza H.
Graham, John M.
Haack, Tobias B.
Juusola, Jane
Kant, Sarina G.
Kayani, Saima
Keren, Boris
Ketteler, Petra
Klöckner, Chiara
Koopmann, Tamara T.
Kruisselbrink, Teresa M.
Kuechler, Alma
Lambert, Laëtitia
Latypova, Xénia
Lebel, Robert Roger
Leduc, Magalie S.
Leonardi, Emanuela
Lewis, Andrea M.
Liew, Wendy
Machol, Keren
Mardini, Samir
McWalter, Kirsty
Mignot, Cyril
McLaughlin, Julie
Murgia, Alessandra
Narayanan, Vinodh
Nava, Caroline
Neuser, Sonja
Nizon, Mathilde
Ognibene, Davide
Park, Joohyun
Platzer, Konrad
Poirsier, Céline
Radtke, Maximilian
Ramsey, Keri
Runke, Cassandra K.
Guillen Sacoto, Maria J.
Scaglia, Fernando
Shinawi, Marwan
Spranger, Stephanie
Tan, Ee Shien
Taylor, John
Trentesaux, Anne-Sophie
Vairo, Filippo
Willaert, Rebecca
Zadeh, Neda
Urrutia, Raul
Babovic-Vuksanovic, Dusica
Zimmermann, Michael T.
Mathie, Alistair
Klee, Eric W.
Publication Year :
2022
Publisher :
figshare, 2022.

Abstract

Additional file 1: Supplementary Note. Clinical Histories. Written clinical histories including genetic testing for each novel family in this study. Molecular Modeling Reveals Mutation-Specific Effects on Channel Mechanics. Molecular Dynamics Simulations Show Changes in Potassium Ion Distribution.

Details

Database :
OpenAIRE
Accession number :
edsair.doi.dedup.....e6202d7d543518e1266af3c9bcce60e2
Full Text :
https://doi.org/10.6084/m9.figshare.20064353.v1