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Select item 97408821.

Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity

Grigori Y. Rychkov, Zeeshan Shaukat, Chiao Xin Lim, Rashid Hussain, Ben J. Roberts, Claudia M. Bonardi, Guido Rubboli, Brandon F. Meaney, Robyn Whitney, Rikke S. Møller, Michael G. Ricos, Leanne M. Dibbens

Int J Mol Sci. 2022 Dec; 23(23): 15133. Published online 2022 Dec 1. doi: 10.3390/ijms232315133

PMCID:: PMC9740882

Article PDF–3.3M

Select item 67590302.

An Epilepsy-Associated KCNT1 Mutation Enhances Excitability of Human iPSC-Derived Neurons by Increasing Slack K_Na Currents

Imran H. Quraishi, Shani Stern, Kile P. Mangan, Yalan Zhang, Syed R. Ali, Michael R. Mercier, Maria C. Marchetto, Michael J. McLachlan, Eugenia M. Jones, Fred H. Gage, Leonard K. Kaczmarek

J Neurosci. 2019 Sep 11; 39(37): 7438–7449. doi: 10.1523/JNEUROSCI.1628-18.2019

PMCID:: PMC6759030

Article PDF–2.0M

Select item 64930763.

Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population

Jian Qu, Ying Zhang, Zhi‐Quan Yang, Xiao‐Yuan Mao, Bo‐Ting Zhou, Ji‐Ye Yin, Hui He, Xiang‐Ping Li, Hong‐Yu Long, Nan Lv, Xiao‐Jing Xu, Bo Xiao, Yu Zhang, Qiang Tang, Dong‐Li Hu, Hong‐Hao Zhou, Zhao‐Qian Liu

CNS Neurosci Ther. 2014 Feb; 20(2): 140–146. Published online 2013 Nov 27. doi: 10.1111/cns.12169

PMCID:: PMC6493076

Article PDF–281K

Select item 63897344.

Mild malformations of cortical development in sleep‐related hypermotor epilepsy due to KCNT1 mutations

Guido Rubboli, Giuseppe Plazzi, Fabienne Picard, Lino Nobili, Edouard Hirsch, Jamel Chelly, Richard A. Prayson, Jean Boutonnat, Manuela Bramerio, Philippe Kahane, Leanne M. Dibbens, Elena Gardella, Stéphanie Baulac, Rikke S. Møller

Ann Clin Transl Neurol. 2019 Feb; 6(2): 386–391. Published online 2018 Dec 25. doi: 10.1002/acn3.708

PMCID:: PMC6389734

Article PDF–343K

Select item 59153345.

Mutations in KCNT1 cause a spectrum of focal epilepsies

Rikke S. Møller, Sarah E. Heron, Line H. G. Larsen, Chiao Xin Lim, Michael G. Ricos, Marta A. Bayly, Marjan J. A. van Kempen, Sylvia Klinkenberg, Ian Andrews, Kent Kelley, Gabriel M. Ronen, David Callen, Jacinta M. McMahon, Simone C. Yendle, Gemma L. Carvill, Heather C. Mefford, Rima Nabbout, Annapurna Poduri, Pasquale Striano, Maria G. Baglietto, Federico Zara, Nicholas J. Smith, Clair Pridmore, Elena Gardella, Marina Nikanorova, Hans Atli Dahl, Pia Gellert, Ingrid E. Scheffer, Boudewijn Gunning, Bente Kragh-Olsen, Leanne M. Dibbens

Epilepsia. Author manuscript; available in PMC 2018 Apr 24.

Published in final edited form as: Epilepsia. 2015 Sep; 56(9): e114–e120. Published online 2015 Jun 30. doi: 10.1111/epi.13071

PMCID:: PMC5915334

Article PDF–182K

Select item 57546476.

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

Amy McTague, Umesh Nair, Sony Malhotra, Esther Meyer, Natalie Trump, Elena V. Gazina, Apostolos Papandreou, Adeline Ngoh, Sally Ackermann, Gautam Ambegaonkar, Richard Appleton, Archana Desurkar, Christin Eltze, Rachel Kneen, Ajith V. Kumar, Karine Lascelles, Tara Montgomery, Venkateswaran Ramesh, Rajib Samanta, Richard H. Scott, Jeen Tan, William Whitehouse, Annapurna Poduri, Ingrid E. Scheffer, W.K. “Kling” Chong, J. Helen Cross, Maya Topf, Steven Petrou, Manju A. Kurian

Neurology. 2018 Jan 2; 90(1): e55–e66. doi: 10.1212/WNL.0000000000004762

PMCID:: PMC5754647

Article PDF–1.4M

Select item 47067757.

Qiong-Yao Tang, Fei-Fei Zhang, Jie Xu, Ran Wang, Jian Chen, Diomedes E Logothetis, Zhe Zhang

Cell Rep. Author manuscript; available in PMC 2016 Jan 9.

Published in final edited form as: Cell Rep. 2016 Jan 5; 14(1): 129–139. Published online 2015 Dec 24. doi: 10.1016/j.celrep.2015.12.019

PMCID:: PMC4706775

Article PDF–2.4M

Select item 42944188.

Human Slack potassium channel mutations increase positive cooperativity between individual channels

Grace E. Kim, Jack Kronengold, Giulia Barcia, Imran H. Quraishi, Hilary C. Martin, Edward Blair, Jenny C. Taylor, Olivier Dulac, Laurence Colleaux, Rima Nabbout, Leonard K. Kaczmarek

Cell Rep. Author manuscript; available in PMC 2015 Dec 11.

Published in final edited form as: Cell Rep. 2014 Dec 11; 9(5): 1661–1672. Published online 2014 Dec 4. doi: 10.1016/j.celrep.2014.11.015

PMCID:: PMC4294418

Article PDF–697K

Select item 109425929.

Coupling of Slack and Na_V1.6 sensitizes Slack to quinidine blockade and guides anti-seizure strategy development

Tian Yuan, Yifan Wang, Yuchen Jin, Hui Yang, Shuai Xu, Heng Zhang, Qian Chen, Na Li, Xinyue Ma, Huifang Song, Chao Peng, Ze Geng, Jie Dong, Guifang Duan, Qi Sun, Yang Yang, Fan Yang, Zhuo Huang

eLife. 2024; 12: RP87559. Published online 2024 Jan 30. doi: 10.7554/eLife.87559

PMCID:: PMC10942592

Article PDF–24M

Select item 564619810.

Lethal digenic mutations in the K⁺ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay

Sonia Hasan, Ameera Balobaid, Alessandro Grottesi, Omar Dabbagh, Marta Cenciarini, Rifaat Rawashdeh, Afaf Al-Sagheir, Cecilia Bove, Lara Macchioni, Mauro Pessia, Mohammed Al-Owain, Maria Cristina D’Adamo

J Neurophysiol. 2017 Oct 1; 118(4): 2402–2411. Published online 2017 Jul 26. doi: 10.1152/jn.00284.2017

PMCID:: PMC5646198

Article

Select item 537410611.

Molecular mechanisms of Slo2 K⁺ channel closure

M. Hunter Giese, Alison Gardner, Angela Hansen, Michael C. Sanguinetti

J Physiol. 2017 Apr 1; 595(7): 2321–2336. Published online 2016 Dec 2. doi: 10.1113/JP273225

PMCID:: PMC5374106

Article PDF–1.1M

Select item 512374112.

Stimulation of Slack K⁺ channels alters mass at the plasma membrane by triggering dissociation of a phosphatase-regulatory complex

Matthew R. Fleming, Maile R. Brown, Jack Kronengold, Yalan Zhang, David P. Jenkins, Gulia Barcia, Rima Nabbout, Anne E. Bausch, Peter Ruth, Robert Lukowski, Dhasakumar S. Navaratnam, Leonard K. Kaczmarek

Cell Rep. Author manuscript; available in PMC 2016 Nov 25.

Published in final edited form as: Cell Rep. 2016 Aug 30; 16(9): 2281–2288. Published online 2016 Aug 18. doi: 10.1016/j.celrep.2016.07.024

PMCID:: PMC5123741

Article PDF–1005K

Select item 415861713.

KCNT1 gain-of-function in two epilepsy phenotypes is reversed by quinidine

Carol J. Milligan, Melody Li, Elena V. Gazina, Sarah E. Heron, Umesh Nair, Chantel Trager, Christopher A. Reid, Anu Venkat, Donald P. Younkin, Dennis J. Dlugos, Slavé Petrovski, David B. Goldstein, Leanne M. Dibbens, Ingrid E. Scheffer, Samuel F Berkovic, Steven Petrou

Ann Neurol. Author manuscript; available in PMC 2015 Apr 14.

Published in final edited form as: Ann Neurol. 2014 Apr; 75(4): 581–590. Published online 2014 Apr 14. doi: 10.1002/ana.24128

PMCID:: PMC4158617

Article PDF–2.6M

Select item 368754714.

De novo gain of function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Giulia Barcia, Matthew R. Fleming, Aline Deligniere, Valeswara-Rao Gazula, Maile R. Brown, Maeva Langouet, Haijun Chen, Jack Kronengold, Avinash Abhyankar, Roberta Cilio, Patrick Nitschke, Anna Kaminska, Nathalie Boddaert, Jean-Laurent Casanova, Isabelle Desguerre, Arnold Munnich, Olivier Dulac, Leonard K. Kaczmarek, Laurence Colleaux, Rima Nabbout

Nat Genet. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: Nat Genet. 2012 Nov; 44(11): 1255–1259. Published online 2012 Oct 21. doi: 10.1038/ng.2441

PMCID:: PMC3687547

Article PDF–1.7M

Select item 403077515.

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

Hilary C. Martin, Grace E. Kim, Alistair T. Pagnamenta, Yoshiko Murakami, Gemma L. Carvill, Esther Meyer, Richard R. Copley, Andrew Rimmer, Giulia Barcia, Matthew R. Fleming, Jack Kronengold, Maile R. Brown, Karl A. Hudspith, John Broxholme, Alexander Kanapin, Jean-Baptiste Cazier, Taroh Kinoshita, Rima Nabbout, The WGS500 Consortium, David Bentley, Gil McVean, Sinéad Heavin, Zenobia Zaiwalla, Tony McShane, Heather C. Mefford, Deborah Shears, Helen Stewart, Manju A. Kurian, Ingrid E. Scheffer, Edward Blair, Peter Donnelly, Leonard K. Kaczmarek, Jenny C. Taylor

Hum Mol Genet. 2014 Jun 15; 23(12): 3200–3211. Published online 2014 Jan 25. doi: 10.1093/hmg/ddu030

PMCID:: PMC4030775

Article PDF–626K

Select item 421019616.

Cell Volume Changes Regulate Slick (Slo2.1), but Not Slack (Slo2.2) K⁺ Channels

Maria A. Tejada, Kathleen Stople, Sofia Hammami Bomholtz, Anne-Kristine Meinild, Asser Nyander Poulsen, Dan A. Klaerke

PLoS One. 2014; 9(10): e110833. Published online 2014 Oct 27. doi: 10.1371/journal.pone.0110833

PMCID:: PMC4210196

Article PDF–737K

Select item 420684117.

Disease-Targeted Sequencing of Ion Channel Genes identifies de novo mutations in Patients with Non-Familial Brugada Syndrome

Jyh-Ming Jimmy Juang, Tzu-Pin Lu, Liang-Chuan Lai, Chia-Chuan Ho, Yen-Bin Liu, Chia-Ti Tsai, Lian-Yu Lin, Chih-Chieh Yu, Wen-Jone Chen, Fu-Tien Chiang, Shih-Fan Sherri Yeh, Ling-Ping Lai, Eric Y. Chuang, Jiunn-Lee Lin

Sci Rep. 2014; 4: 6733. Published online 2014 Oct 23. doi: 10.1038/srep06733

PMCID:: PMC4206841

Article PDF–1.4M

Select item 273408118.

DNA sequence and analysis of human chromosome 9

S. J. Humphray, K. Oliver, A. R. Hunt, R. W. Plumb, J. E. Loveland, K. L. Howe, T. D. Andrews, S. Searle, S. E. Hunt, C. E. Scott, M. C. Jones, R. Ainscough, J. P. Almeida, K. D. Ambrose, R. I. S. Ashwell, A. K. Babbage, S. Babbage, C. L. Bagguley, J. Bailey, R. Banerjee, D. J. Barker, K. F. Barlow, K. Bates, H. Beasley, O. Beasley, C. P. Bird, S. Bray-Allen, A. J. Brown, J. Y. Brown, D. Burford, W. Burrill, J. Burton, C. Carder, N. P. Carter, J. C. Chapman, Y. Chen, G. Clarke, S. Y. Clark, C. M. Clee, S. Clegg, R. E. Collier, N. Corby, M. Crosier, A. T. Cummings, J. Davies, P. Dhami, M. Dunn, I. Dutta, L. W. Dyer, M. E. Earthrowl, L. Faulkner, C. J. Fleming, A. Frankish, J. A. Frankland, L. French, D. G. Fricker, P. Garner, J. Garnett, J. Ghori, J. G. R. Gilbert, C. Glison, D. V. Grafham, S. Gribble, C. Griffiths, S. Griffiths-Jones, R. Grocock, J. Guy, R. E. Hall, S. Hammond, J. L. Harley, E. S. I. Harrison, E. A. Hart, P. D. Heath, C. D. Henderson, B. L. Hopkins, P. J. Howard, P. J. Howden, E. Huckle, C. Johnson, D. Johnson, A. A. Joy, M. Kay, S. Keenan, J. K. Kershaw, A. M. Kimberley, A. King, A. Knights, G. K. Laird, C. Langford, S. Lawlor, D. A. Leongamornlert, M. Leversha, C. Lloyd, D. M. Lloyd, J. Lovell, S. Martin, M. Mashreghi-Mohammadi, L. Matthews, S. McLaren, K. E. McLay, A. McMurray, S. Milne, T. Nickerson, J. Nisbett, G. Nordsiek, A. V. Pearce, A. I. Peck, K. M. Porter, R. Pandian, S. Pelan, B. Phillimore, S. Povey, Y. Ramsey, V. Rand, M. Scharfe, H. K. Sehra, R. Shownkeen, S. K. Sims, C. D. Skuce, M. Smith, C. A. Steward, D. Swarbreck, N. Sycamore, J. Tester, A. Thorpe, A. Tracey, A. Tromans, D. W. Thomas, M. Wall, J. M. Wallis, A. P. West, S. L. Whitehead, D. L. Willey, S. A. Williams, L. Wilming, P. W. Wray, L. Young, J. L. Ashurst, A. Coulson, H. Blöcker, R. Durbin, J. E. Sulston, T. Hubbard, M. J. Jackson, D. R. Bentley, S. Beck, J. Rogers, I. Dunham

Nature. Author manuscript; available in PMC 2009 Aug 28.

Published in final edited form as: Nature. 2004 May 27; 429(6990): 369–374. doi: 10.1038/nature02465

PMCID:: PMC2734081

Article PDF–1006K

Select item 135612919.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Article PDF–438K

Select item 13924120.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Article PDF–118K

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