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Select item 107173281.

Control of ionic selectivity by a pore helix residue in the Kv1.2 channel

Chia-Chia Chao, Chieh-Chen Huang, Chang-Shin Kuo, Yuk-Man Leung

J Physiol Sci. 2010 Nov; 60(6): 441–446. Published online 2010 Sep 15. doi: 10.1007/s12576-010-0111-1

PMCID:: PMC10717328

Abstract Article PDF–1.1M

Select item 81051642.

Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes

Marie Hully, Tommaso Lo Barco, Anna Kaminska, Giulia Barcia, Claude Cances, Cyril Mignot, Isabelle Desguerre, Nicolas Garcelon, Edor Kabashi, Rima Nabbout

Genet Med. 2021; 23(5): 968–971. Published online 2021 Jan 26. doi: 10.1038/s41436-020-01039-z

PMCID:: PMC8105164

Abstract Article PDF–735K

Select item 79992213.

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

Jan H. Döring, Julian Schröter, Jerome Jüngling, Saskia Biskup, Kerstin A. Klotz, Thomas Bast, Tobias Dietel, G. Christoph Korenke, Sophie Christoph, Heiko Brennenstuhl, Guido Rubboli, Rikke S. Møller, Gaetan Lesca, Yves Chaix, Stefan Kölker, Georg F. Hoffmann, Johannes R. Lemke, Steffen Syrbe

Int J Mol Sci. 2021 Mar; 22(6): 2824. Published online 2021 Mar 10. doi: 10.3390/ijms22062824

PMCID:: PMC7999221

Abstract Article PDF–1.8M

Select item 51294884.

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

Katherine L. Helbig, Ulrike B.S. Hedrich, Deepali N. Shinde, Ilona Krey, Anne‐Christin Teichmann, Julia Hentschel, Julian Schubert, Adam C. Chamberlin, Robert Huether, Hsiao‐Mei Lu, Wendy A. Alcaraz, Sha Tang, Chelsy Jungbluth, Sarah L. Dugan, Leena Vainionpää, Kathrin N. Karle, Matthis Synofzik, Ludger Schöls, Rebecca Schüle, Anna‐Elina Lehesjoki, Ingo Helbig, Holger Lerche, Johannes R. Lemke

Ann Neurol. 2016 Oct; 80(4): 638–642. Published online 2016 Sep 9. doi: 10.1002/ana.24762

PMCID:: PMC5129488

Abstract Article PDF–323K

Select item 51099495.

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

Mark A. Corbett, Susannah T. Bellows, Melody Li, Renée Carroll, Silvana Micallef, Gemma L. Carvill, Candace T. Myers, Katherine B. Howell, Snezana Maljevic, Holger Lerche, Elena V. Gazina, Heather C. Mefford, Melanie Bahlo, Samuel F. Berkovic, Steven Petrou, Ingrid E. Scheffer, Jozef Gecz

Neurology. 2016 Nov 8; 87(19): 1975–1984. doi: 10.1212/WNL.0000000000003309

PMCID:: PMC5109949

Abstract Article PDF–696K

Select item 49609886.

Determinants of frequency-dependent regulation of Kv1.2-containing potassium channels

Victoria A. Baronas, Runying Yang, Yury Y. Vilin, Harley T. Kurata

Channels (Austin) 2016 Mar-Apr; 10(2): 158–166. Published online 2015 Dec 8. doi: 10.1080/19336950.2015.1120390

PMCID:: PMC4960988

Abstract Article PDF–1005K

Select item 43805087.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Steffen Syrbe, Ulrike B.S. Hedrich, Erik Riesch, Tania Djémié, Stephan Müller, Rikke S. Møller, Bridget Maher, Laura Hernandez-Hernandez, Matthis Synofzik, Hande S. Caglayan, Mutluay Arslan, José M. Serratosa, Michael Nothnagel, Patrick May, Roland Krause, Heidrun Löffler, Katja Detert, Thomas Dorn, Heinrich Vogt, Günter Krämer, Ludger Schöls, Primus E. Mullis, Tarja Linnankivi, Anna-Elina Lehesjoki, Katalin Sterbova, Dana C. Craiu, Dorota Hoffman-Zacharska, Christian M. Korff, Yvonne G. Weber, Maja Steinlin, Sabina Gallati, Astrid Bertsche, Matthias K. Bernhard, Andreas Merkenschlager, Wieland Kiess, EuroEPINOMICS RES consortium, Michael Gonzalez, Stephan Züchner, Aarno Palotie, Arvid Suls, Peter De Jonghe, Ingo Helbig, Saskia Biskup, Markus Wolff, Snezana Maljevic, Rebecca Schüle, Sanjay M. Sisodiya, Sarah Weckhuysen, Holger Lerche, Johannes R. Lemke

Nat Genet. Author manuscript; available in PMC 2015 Oct 1.

Published in final edited form as: Nat Genet. 2015 Apr; 47(4): 393–399. Published online 2015 Mar 9. doi: 10.1038/ng.3239

PMCID:: PMC4380508

Abstract Article PDF–590K

Select item 29660078.

Effect of Sensor Domain Mutations on the Properties of Voltage-Gated Ion Channels: Molecular Dynamics Studies of the Potassium Channel Kv1.2

Lucie Delemotte, Werner Treptow, Michael L. Klein, Mounir Tarek

Biophys J. 2010 Nov 3; 99(9): L72–L74. doi: 10.1016/j.bpj.2010.08.069

Correction in:: Biophys J. 2010 Dec 1; 99(11): 3859.

PMCID:: PMC2966007

Abstract Article PDF–263K

Select item 28945439.

Fast and slow voltage sensor rearrangements during activation gating in Kv1.2 channels detected using tetramethylrhodamine fluorescence

Andrew James Horne, Christian Joseph Peters, Thomas William Claydon, David Fedida

J Gen Physiol. 2010 Jul; 136(1): 83–99. doi: 10.1085/jgp.201010413

PMCID:: PMC2894543

Abstract Article PDF–5.9M

Select item 284812810.

From the gating charge response to pore domain movement: Initial motions of Kv1.2 dynamics under physiological voltage changes

Elizabeth J. Denning, Paul S. Crozier, Jonathan N. Sachs, Thomas B. Woolf

Mol Membr Biol. Author manuscript; available in PMC 2010 Dec 1.

Published in final edited form as: Mol Membr Biol. 2009 Dec; 26(8): 397–421. doi: 10.3109/09687680903278539

PMCID:: PMC2848128

Abstract Article PDF–3.6M

Select item 270555711.

Calix[4]arene-based conical-shaped ligands for voltage-dependent potassium channels

Vera Martos, Sarah C. Bell, Eva Santos, Ehud Y. Isacoff, Dirk Trauner, Javier de Mendoza

Proc Natl Acad Sci U S A. 2009 Jun 30; 106(26): 10482–10486. Published online 2009 May 12. doi: 10.1073/pnas.0813396106

PMCID:: PMC2705557

Abstract Article PDF–1.1M

Select item 214458612.

Chemical synthesis and ¹H-NMR 3D structure determination of AgTx2-MTX chimera, a new potential blocker for Kv1.2 channel, derived from MTX and AgTx2 scorpion toxins

Cyril Pimentel, Sarrah M'Barek, Violetta Visan, Stephan Grissmer, François Sampieri, Jean-Marc Sabatier, Hervé Darbon, Ziad Fajloun

Protein Sci. 2008 Jan; 17(1): 107–118. doi: 10.1110/ps.073122908

PMCID:: PMC2144586

Abstract Article PDF–508K

Select item 122372813.

Allowed N-glycosylation sites on the Kv1.2 potassium channel S1-S2 linker: implications for linker secondary structure and the glycosylation effect on channel function.

Jing Zhu, Itaru Watanabe, Amanda Poholek, Matthew Koss, Barbara Gomez, Chaowen Yan, Esperanza Recio-Pinto, William B Thornhill

Biochem J. 2003 Nov 1; 375(Pt 3): 769–775. doi: 10.1042/BJ20030517

PMCID:: PMC1223728

Summary PDF–237K

Select item 51534214.

Endocytosis as a Mechanism for Tyrosine Kinase-dependent Suppression of a Voltage-gated Potassium Channel

Edmund Nesti, Brian Everill, Anthony D. Morielli

Mol Biol Cell. 2004 Sep; 15(9): 4073–4088. doi: 10.1091/mbc.E03-11-0788

PMCID:: PMC515342

Abstract Article PDF–1.0M

Select item 916994715.

An epilepsy-associated K_V1.2 charge-transfer-center mutation impairs K_V1.2 and K_V1.4 trafficking

Michelle Nilsson, Sarah H. Lindström, Maki Kaneko, Kaiqian Wang, Teresa Minguez-Viñas, Marina Angelini, Federica Steccanella, Deborah Holder, Michela Ottolia, Riccardo Olcese, Antonios Pantazis

Proc Natl Acad Sci U S A. 2022 Apr 26; 119(17): e2113675119. Published online 2022 Apr 19. doi: 10.1073/pnas.2113675119