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Items: 1 to 20 of 40

1.
Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders
Haiming Yuan, Huihua Yuan, Qingming Wang, Wanhua Ye, Ruixia Yao, Wanfang Xu, Yanhui Liu
Mol Genet Genomic Med. 2020 Oct; 8(10): e1434. Published online 2020 Jul 23. doi: 10.1002/mgg3.1434
PMCID:
PMC7549609
AbstractArticlePDF–863K
2.
Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine
Rían W. Manville, Geoffrey W. Abbott
J Pharmacol Exp Ther. 2020 Jun; 373(3): 391–401. Published online 2020 Jun. doi: 10.1124/jpet.119.264507
PMCID:
PMC7228494
AbstractArticlePDF–2.2M
3.
Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity
Kelsey Paulhus, Lauren Ammerman, Edward Glasscock
Int J Mol Sci. 2020 Apr; 21(8): 2802. Published online 2020 Apr 17. doi: 10.3390/ijms21082802
PMCID:
PMC7215408
AbstractArticlePDF–1.3M
4.
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia
Edgard Verdura, Carme Fons, Agatha Schlüter, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Antonio Castellano, Aurora Pujol
J Med Genet. 2020 Feb; 57(2): 132–137. Published online 2019 Oct 5. doi: 10.1136/jmedgenet-2019-106373
PMCID:
PMC7029237
AbstractArticlePDF–3.6M
5.
Silencing of KCNA1 suppresses the cervical cancer development via mitochondria damage
Li Liu, Yumei Chen, Qingyuan Zhang, Changzhong Li
Channels (Austin) 2019; 13(1): 321–330. Published online 2019 Jul 27. doi: 10.1080/19336950.2019.1648627
PMCID:
PMC6682364
AbstractArticlePDF–3.0M
6.
Kv1.1 channel subunits in the control of neurocardiac function
Edward Glasscock
Channels (Austin) 2019; 13(1): 299–307. Published online 2019 Jun 28. doi: 10.1080/19336950.2019.1635864
PMCID:
PMC6602576
AbstractArticlePDF–1.3M
7.
A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia
Jenny van der Wijst, Martin Konrad, Sjoerd A.J. Verkaart, Marcin Tkaczyk, Femke Latta, Janine Altmüller, Holger Thiele, Bodo Beck, Karl Peter Schlingmann, Jeroen H.F. de Baaij
Nephron Clin Pract. 2018 Jul; 139(4): 359–366. Published online 2018 May 23. doi: 10.1159/000488954
PMCID:
PMC6492638
AbstractArticle
8.
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia
Sonia Hasan, Cecilia Bove, Gabriella Silvestri, Elide Mantuano, Anna Modoni, Liana Veneziano, Lara Macchioni, Therese Hunter, Gary Hunter, Mauro Pessia, Maria Cristina D’Adamo
Sci Rep. 2017; 7: 4583. Published online 2017 Jul 4. doi: 10.1038/s41598-017-03041-z
PMCID:
PMC5496848
AbstractArticlePDF–3.3M
9.
Expression and function of Kv1.1 potassium channels in human atria from patients with atrial fibrillation
Edward Glasscock, Niels Voigt, Mark D. McCauley, Qiang Sun, Na Li, David Y. Chiang, Xiao-Bo Zhou, Cristina E. Molina, Dierk Thomas, Constanze Schmidt, Darlene G. Skapura, Jeffrey L. Noebels, Dobromir Dobrev, Xander H. T. Wehrens
Basic Res Cardiol. Author manuscript; available in PMC 2016 Nov 15.
Published in final edited form as: Basic Res Cardiol. 2015 Sep; 110(5): 505. Published online 2015 Jul 11. doi: 10.1007/s00395-015-0505-6
PMCID:
PMC5109931
AbstractArticlePDF–2.1M
10.
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations
Catherine A. Brownstein, Alan H. Beggs, Lance Rodan, Jiahai Shi, Meghan C. Towne, Renee Pelletier, Siqi Cao, Paul A. Rosenberg, David K. Urion, Jonathan Picker, Wen-Hann Tan, Pankaj B. Agrawal
Neurogenetics. Author manuscript; available in PMC 2016 Jun 16.
Published in final edited form as: Neurogenetics. 2016 Jan; 17(1): 11–16. Published online 2015 Sep 22. doi: 10.1007/s10048-015-0460-2
PMCID:
PMC4911217
AbstractArticlePDF–362K
11.
The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels
Szu-Han Chen, Ssu-Ju Fu, Jing-Jia Huang, Chih-Yung Tang
Sci Rep. 2016; 6: 19378. Published online 2016 Jan 18. doi: 10.1038/srep19378
PMCID:
PMC4726062
AbstractArticlePDF–1.6M
12.
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1
Susan Elizabeth Tomlinson, Sanjeev Rajakulendran, Stella Veronica Tan, Tracey Dawn Graves, Doris-Eva Bamiou, Robyn W Labrum, David Burke, Carolyn M Sue, Paola Giunti, Stephanie Schorge, Dimitri M Kullmann, Michael G Hanna
J Neurol Neurosurg Psychiatry. 2013 Oct; 84(10): 1107–1112. Published online 2013 Jan 24. doi: 10.1136/jnnp-2012-304131
PMCID:
PMC4332158
AbstractArticlePDF–2.4M
13.
RNA Editing in the Central Cavity as a Mechanism to Regulate Surface Expression of the Voltage-gated Potassium Channel Kv1.1
Anne K. Streit, Lina A. Matschke, Amalia M. Dolga, Susanne Rinné, Niels Decher
J Biol Chem. 2014 Sep 26; 289(39): 26762–26771. Published online 2014 Aug 6. doi: 10.1074/jbc.M113.545731
PMCID:
PMC4175319
AbstractArticlePDF–1.9M
14.
Editing of human KV1.1 channel mRNAs disrupts binding of the N-terminus tip at the intracellular cavity
Carlos Gonzalez, Angelica Lopez-Rodriguez, Deepa Srikumar, Joshua J.C. Rosenthal, Miguel Holmgren
Nat Commun. 2011 Aug 16; 2: 436. Published online 2011 Aug 16. doi: 10.1038/ncomms1446
PMCID:
PMC3265383
AbstractArticlePDF–779K
15.
Nerve excitability studies characterize KV1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1
Susan E. Tomlinson, S. Veronica Tan, Dimitri M. Kullmann, Robert C. Griggs, David Burke, Michael G. Hanna, Hugh Bostock
Brain. 2010 Dec; 133(12): 3530–3540. Published online 2010 Nov 23. doi: 10.1093/brain/awq318
PMCID:
PMC2995887
AbstractArticlePDF–327K
16.
Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins(Video)
T.D. Graves, S. Rajakulendran, S.M. Zuberi, H.R. Morris, S. Schorge, M.G. Hanna, D.M. Kullmann
Neurology. 2010 Jul 27; 75(4): 367–372. doi: 10.1212/WNL.0b013e3181ea9ee3
PMCID:
PMC2918890
AbstractArticlePDF–934K
17.
Functional Analysis of the Kv1.1 N255D Mutation Associated with Autosomal Dominant Hypomagnesemia
Jenny van der Wijst, Bob Glaudemans, Hanka Venselaar, Anil V. Nair, Anna-Lena Forst, Joost G. J. Hoenderop, René J. M. Bindels
J Biol Chem. 2010 Jan 1; 285(1): 171–178. Published online 2009 Nov 10. doi: 10.1074/jbc.M109.041517
PMCID:
PMC2804162
AbstractArticlePDF–1.8M
18.
Variable K+ channel subunit dysfunction in inherited mutations of KCNA1
Ruth Rea, Alexander Spauschus, Louise H Eunson, Michael G Hanna, Dimitri M Kullmann
J Physiol. 2002 Jan 1; 538(Pt 1): 5–23. doi: 10.1113/jphysiol.2001.013242
PMCID:
PMC2290030
AbstractArticlePDF–655K
19.
The human Kv1.1 channel is palmitoylated, modulating voltage sensing: Identification of a palmitoylation consensus sequence
Rose A. Gubitosi-Klug, David J. Mancuso, Richard W. Gross
Proc Natl Acad Sci U S A. 2005 Apr 26; 102(17): 5964–5968. Published online 2005 Apr 18. doi: 10.1073/pnas.0501999102
PMCID:
PMC1087951
AbstractArticlePDF–292K
20.
Functional coupling of intracellular calcium and inactivation of voltage-gated Kv1.1/Kvβ1.1 A-type K+ channels
Flora Jow, Zhi-Hao Zhang, David C. Kopsco, Karen C. Carroll, KeWei Wang
Proc Natl Acad Sci U S A. 2004 Oct 26; 101(43): 15535–15540. Published online 2004 Oct 14. doi: 10.1073/pnas.0402081101
PMCID:
PMC524431
AbstractArticlePDF–422K

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