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Select item 66238021.

Mechanism of Accelerated Current Decay Caused by an Episodic Ataxia Type-1-Associated Mutant in a Potassium Channel Pore

Christian J. Peters, Daniel Werry, Hira S. Gill, Eric A. Accili, David Fedida

J Neurosci. 2011 Nov 30; 31(48): 17449–17459. doi: 10.1523/JNEUROSCI.2940-11.2011

PMCID:: PMC6623802

Abstract Article PDF–2.6M

Select item 43321582.

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

Abstract Article PDF–2.4M

Select item 103077163.

Episodic Ataxia Type 1: Natural History and Effect on Quality of Life

Tracey D. Graves, Robert C. Griggs, Brian N. Bundy, Joanna C. Jen, Robert W. Baloh, Michael G. Hanna, the CINCH Investigators

Cerebellum. 2023; 22(4): 578–586. Published online 2022 Jun 3. doi: 10.1007/s12311-021-01360-6

Correction in:: Cerebellum. 2023; 22(4): 587.

PMCID:: PMC10307716

Abstract Article PDF–761K

Select item 11704684.

Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel.

M C D'Adamo, Z Liu, J P Adelman, J Maylie, M Pessia

EMBO J. 1998 Mar 2; 17(5): 1200–1207. doi: 10.1093/emboj/17.5.1200

PMCID:: PMC1170468

Summary PDF–454K

Select item 67577285.

Episodic Ataxia Type 1 Mutations in the Human Kv1.1 Potassium Channel Alter hKvβ1-Induced N-Type Inactivation

Brooke Maylie, Erinne Bissonnette, Michael Virk, John P. Adelman, James G. Maylie

J Neurosci. 2002 Jun 15; 22(12): 4786–4793. doi: 10.1523/JNEUROSCI.22-12-04786.2002

PMCID:: PMC6757728

Abstract Article PDF–219K

Select item 53169426.

Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing

Elizabeth A. Ferrick-Kiddie, Joshua J. C. Rosenthal, Gregory D. Ayers, Ronald B. Emeson

Sci Rep. 2017; 7: 41095. Published online 2017 Feb 20. doi: 10.1038/srep41095

PMCID:: PMC5316942

Abstract Article PDF–1.2M

Select item 45412157.

New insights into the pathogenesis and therapeutics of episodic ataxia type 1

Maria Cristina D’Adamo, Sonia Hasan, Luca Guglielmi, Ilenio Servettini, Marta Cenciarini, Luigi Catacuzzeno, Fabio Franciolini

Front Cell Neurosci. 2015; 9: 317. Published online 2015 Aug 19. doi: 10.3389/fncel.2015.00317

PMCID:: PMC4541215

Abstract Article PDF–509K

Select item 39595548.

Episodic ataxia type 1: clinical characterization, quality of life and genotype–phenotype correlation

Tracey D. Graves, Yoon-Hee Cha, Angelika F. Hahn, Richard Barohn, Mohammed K. Salajegheh, Robert C. Griggs, Brian N. Bundy, Joanna C. Jen, Robert W. Baloh, Michael G. Hanna

Brain. 2014 Apr; 137(4): 1009–1018. Published online 2014 Feb 26. doi: 10.1093/brain/awu012

PMCID:: PMC3959554

Abstract Article PDF–343K

Select item 29958879.

Nerve excitability studies characterize K_V1.1 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

Abstract Article PDF–327K

Select item 758900210.

A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel

Juan Zhao, Dimitri Petitjean, Georges A. Haddad, Zarah Batulan, Rikard Blunck

Int J Mol Sci. 2020 Oct; 21(20): 7602. Published online 2020 Oct 14. doi: 10.3390/ijms21207602

PMCID:: PMC7589002

Abstract Article PDF–1.8M

Select item 754960911.

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

Abstract Article PDF–863K

Select item 617444112.

Episodic Ataxia Type 1 (K‐channelopathy) Manifesting as Paroxysmal Nonkinesogenic Dyskinesia: Expanding the Phenotype

Kallol K. Set, Debabrata Ghosh, A.H.M. Huq, Aimee F. Luat

Mov Disord Clin Pract. 2017 Sep-Oct; 4(5): 784–786. Published online 2017 Jul 31. doi: 10.1002/mdc3.12518

PMCID:: PMC6174441

Abstract Article PDF–86K

Select item 291889013.

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

Abstract Article PDF–934K

Select item 435470414.

Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1

Pawel Tacik, Kimberly J. Guthrie, Audrey J. Strongosky, Daniel F. Broderick, Douglas L. Riegert-Johnson, Sha Tang, Dima El-Khechen, Alexander S. Parker, Owen A. Ross, Zbigniew K. Wszolek

Mayo Clin Proc. Author manuscript; available in PMC 2016 Mar 1.

Published in final edited form as: Mayo Clin Proc. 2015 Mar; 90(3): 366–371. Published online 2015 Feb 3. doi: 10.1016/j.mayocp.2015.01.001