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Items: 1 to 20 of 136

1.
Parvalbumin interneuron impairment causes synaptic transmission deficits and seizures in SCN8A developmental and epileptic encephalopathy
Raquel M. Miralles, Alexis R. Boscia, Shrinidhi Kittur, Jessica C. Hanflink, Payal S. Panchal, Matthew S. Yorek, Tyler C. J. Deutsch, Caeley M. Reever, Shreya R. Vundela, Eric R. Wengert, Manoj K. Patel
JCI Insight. 2024 Oct 22; 9(20): e181005. Published online 2024 Oct 22. doi: 10.1172/jci.insight.181005
PMCID:
PMC11529981
AbstractArticlePDF–1.2M
2.
Cardiac-Specific Deletion of Scn8a Mitigates Dravet Syndrome-Associated Sudden Death in Adults
D. Ryan King, Mustafa Demirtas, Mikhail Tarasov, Heather L. Struckman, Xiaolei Meng, Drew Nassal, Nicolae Moise, Alec Miller, Dennison Min, Andrew M. Soltisz, Midhun N.K. Anne, Patrícia A. Alves Dias, Jacy L. Wagnon, Seth H. Weinberg, Thomas J. Hund, Rengasayee Veeraraghavan, Przemysław B. Radwański
JACC Clin Electrophysiol. Author manuscript; available in PMC 2024 Jul 29.
Published in final edited form as: JACC Clin Electrophysiol. 2024 May; 10(5): 829–842. Published online 2024 Feb 28. doi: 10.1016/j.jacep.2024.01.003
PMCID:
PMC11285447
AbstractArticlePDF–3.3M
3.
Experimental and computational evidence that Calpain-10 binds to the carboxy terminus of NaV1.2 and NaV1.6
Luis Manuel Arratia, Juan David Bermudes-Contreras, Jorge Armando Juarez-Monroy, Erik Alan Romero-Macías, Julio Cesar Luna-Rojas, Marisol López-Hidalgo, Ana Victoria Vega, Absalom Zamorano-Carrillo
Sci Rep. 2024; 14: 6761. Published online 2024 Mar 21. doi: 10.1038/s41598-024-57117-8
PMCID:
PMC10957924
AbstractArticlePDF–4.0M
4.
Genetic determinants of micronucleus formation in vivo
D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus
Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0
PMCID:
PMC10917660
AbstractArticlePDF–4.8M
5.
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia
Hang Lyu, Christian M. Boßelmann, Katrine M. Johannesen, Mahmoud Koko, Juan Dario Ortigoza-Escobar, Sergio Aguilera-Albesa, Deyanira Garcia-Navas Núñez, Tarja Linnankivi, Eija Gaily, Henriette J.A. van Ruiten, Ruth Richardson, Cornelia Betzler, Gabriella Horvath, Eva Brilstra, Niels Geerdink, Daniele Orsucci, Alessandra Tessa, Elena Gardella, Zofia Fleszar, Ludger Schöls, Holger Lerche, Rikke S. Møller, Yuanyuan Liu
eBioMedicine. 2023 Dec; 98: 104855. Published online 2023 Oct 28. doi: 10.1016/j.ebiom.2023.104855
PMCID:
PMC10628346
AbstractArticlePDF–2.8M
6.
Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy
Sophie F. Hill, Paymaan Jafar-Nejad, Frank Rigo, Miriam H. Meisler
Front Neurosci. 2023; 17: 1282201. Published online 2023 Oct 13. doi: 10.3389/fnins.2023.1282201
PMCID:
PMC10603267
AbstractArticlePDF–1.1M
7.
Role of NaV1.6-mediated persistent sodium current and bursting-pacemaker properties in breathing rhythm generation
Carlos A. da Silva, Jr., Cameron J. Grover, Maria Cristina D. Picardo, Christopher A. Del Negro
Cell Rep. Author manuscript; available in PMC 2023 Sep 27.
Published in final edited form as: Cell Rep. 2023 Aug 29; 42(8): 113000. Published online 2023 Aug 16. doi: 10.1016/j.celrep.2023.113000
PMCID:
PMC10528911
AbstractArticlePDF–1.6M
8.
Kv7/KCNQ potassium channels in cortical hyperexcitability and juvenile seizure-related death in Ank2-mutant mice
Hyoseon Oh, Suho Lee, Yusang Oh, Seongbin Kim, Young Seo Kim, Yeji Yang, Woochul Choi, Ye-Eun Yoo, Heejin Cho, Seungjoon Lee, Esther Yang, Wuhyun Koh, Woojin Won, Ryunhee Kim, C. Justin Lee, Hyun Kim, Hyojin Kang, Jin Young Kim, Taeyun Ku, Se-Bum Paik, Eunjoon Kim
Nat Commun. 2023; 14: 3547. Published online 2023 Jun 15. doi: 10.1038/s41467-023-39203-z
PMCID:
PMC10272139
AbstractArticlePDF–4.3M
9.
Prefrontal PV interneurons facilitate attention and are linked to attentional dysfunction in a mouse model of absence epilepsy
Brielle Ferguson, Cameron Glick, John R Huguenard
eLife. 2023; 12: e78349. Published online 2023 Apr 4. doi: 10.7554/eLife.78349
PMCID:
PMC10072875
AbstractArticlePDF–6.4M
10.
Cryo-EM structure of human voltage-gated sodium channel Nav1.6
Xiao Fan, Jian Huang, Xueqin Jin, Nieng Yan
Proc Natl Acad Sci U S A. 2023 Jan 31; 120(5): e2220578120. Published online 2023 Jan 25. doi: 10.1073/pnas.2220578120
PMCID:
PMC9945969
AbstractArticlePDF–2.5M
11.
Genetic interaction between Scn8a and potassium channel genes Kcna1 and Kcnq2
Sophie F. Hill, Julie M. Ziobro, Paymaan Jafar‐Nejad, Frank Rigo, Miriam H. Meisler
Epilepsia. 2022 Oct; 63(10): e125–e131. Published online 2022 Aug 11. doi: 10.1111/epi.17374
PMCID:
PMC9804156
AbstractArticlePDF–2.2M
12.
Impaired macroglial development and axonal conductivity contributes to the neuropathology of DYRK1A-related intellectual disability syndrome
Isabel Pijuan, Elisa Balducci, Cristina Soto-Sánchez, Eduardo Fernández, María José Barallobre, Maria L. Arbonés
Sci Rep. 2022; 12: 19912. Published online 2022 Nov 19. doi: 10.1038/s41598-022-24284-5
PMCID:
PMC9675854
AbstractArticlePDF–4.8M
13.
Reducing Nav1.6 expression attenuates the pathogenesis of Alzheimer's disease by suppressing BACE1 transcription
De‐Juan Yuan, Guang Yang, Wei Wu, Qi‐Fa Li, De‐en Xu, Michael Ntim, Chun‐Yan Jiang, Ji‐Chuan Liu, Yue Zhang, Ying‐Zi Wang, Dan‐Dan Zhu, Supratik Kundu, Ai‐Ping Li, Zhi‐Cheng Xiao, Quan‐Hong Ma, Shao Li
Aging Cell. 2022 May; 21(5): e13593. Published online 2022 Mar 30. doi: 10.1111/acel.13593
PMCID:
PMC9124306
AbstractArticlePDF–3.3M
14.
Social Deficits and Cerebellar Degeneration in Purkinje Cell Scn8a Knockout Mice
Xiaofan Yang, Hongqiang Yin, Xiaojing Wang, Yueqing Sun, Xianli Bian, Gaorui Zhang, Anning Li, Aihua Cao, Baomin Li, Darius Ebrahimi-Fakhari, Zhuo Yang, Miriam H. Meisler, Qiji Liu
Front Mol Neurosci. 2022; 15: 822129. Published online 2022 Apr 26. doi: 10.3389/fnmol.2022.822129
PMCID:
PMC9087741
AbstractArticlePDF–3.8M
15.
Maladaptive myelination promotes generalized epilepsy progression
Juliet K. Knowles, Haojun Xu, Caroline Soane, Ankita Batra, Tristan Saucedo, Eleanor Frost, Lydia T. Tam, Danielle Fraga, Lijun Ni, Katlin Villar, Sydney Talmi, John R. Huguenard, Michelle Monje
Nat Neurosci. 2022; 25(5): 596–606. Published online 2022 May 2. doi: 10.1038/s41593-022-01052-2
PMCID:
PMC9076538
AbstractArticlePDF–5.5M
16.
Functional genomic landscape of cancer-intrinsic evasion of killing by T cells
Keith A. Lawson, Cristovão M. Sousa, Xiaoyu Zhang, Eiru Kim, Rummy Akthar, Joseph J. Caumanns, Yuxi Yao, Nicholas Mikolajewicz, Catherine Ross, Kevin R. Brown, Abdelrahman Abou Zid, Zi Peng Fan, Shirley Hui, Jordan A. Krall, Donald M. Simons, Chloe J. Slater, Victor De Jesus, Lujia Tang, Richa Singh, Joshua E. Goldford, Sarah Martin, Qian Huang, Elizabeth A. Francis, Andrea Habsid, Ryan Climie, David Tieu, Jiarun Wei, Ren Li, Amy Hin Yan Tong, Michael Aregger, Katherine S. Chan, Hong Han, Xiaowei Wang, Patricia Mero, John H. Brumell, Antonio Finelli, Laurie Ailles, Gary Bader, Gromoslaw A. Smolen, Gillian A. Kingsbury, Traver Hart, Charles Kung, Jason Moffat
Nature. Author manuscript; available in PMC 2022 Apr 18.
Published in final edited form as: Nature. 2020 Oct; 586(7827): 120–126. Published online 2020 Sep 23. doi: 10.1038/s41586-020-2746-2
PMCID:
PMC9014559
AbstractArticlePDF–6.6M
17.
NBI-921352, a first-in-class, NaV1.6 selective, sodium channel inhibitor that prevents seizures in Scn8a gain-of-function mice, and wild-type mice and rats
JP Johnson, Thilo Focken, Kuldip Khakh, Parisa Karimi Tari, Celine Dube, Samuel J Goodchild, Jean-Christophe Andrez, Girish Bankar, David Bogucki, Kristen Burford, Elaine Chang, Sultan Chowdhury, Richard Dean, Gina de Boer, Shannon Decker, Christoph Dehnhardt, Mandy Feng, Wei Gong, Michael Grimwood, Abid Hasan, Angela Hussainkhel, Qi Jia, Stephanie Lee, Jenny Li, Sophia Lin, Andrea Lindgren, Verner Lofstrand, Janette Mezeyova, Rostam Namdari, Karen Nelkenbrecher, Noah Gregory Shuart, Luis Sojo, Shaoyi Sun, Matthew Taron, Matthew Waldbrook, Diana Weeratunge, Steven Wesolowski, Aaron Williams, Michael Wilson, Zhiwei Xie, Rhena Yoo, Clint Young, Alla Zenova, Wei Zhang, Alison J Cutts, Robin P Sherrington, Simon N Pimstone, Raymond Winquist, Charles J Cohen, James R Empfield
eLife. 2022; 11: e72468. Published online 2022 Mar 2. doi: 10.7554/eLife.72468
PMCID:
PMC8903829
AbstractArticlePDF–2.4M
18.
Peri-Ictal Autonomic Control of Cardiac Function and Seizure-Induced Death
Ian C. Wenker, Elizabeth A. Blizzard, Pravin K. Wagley, Manoj K. Patel
Front Neurosci. 2021; 15: 795145. Published online 2022 Jan 21. doi: 10.3389/fnins.2021.795145
PMCID:
PMC8813980
AbstractArticlePDF–3.6M
19.
Correction of the hypomorphic Gabra2 splice site variant in mouse strain C57BL/6J modifies the severity of Scn8a encephalopathy
Wenxi Yu, Megan K. Mulligan, Robert W. Williams, Miriam H. Meisler
HGG Adv. 2022 Jan 13; 3(1): 100064. Published online 2021 Oct 8. doi: 10.1016/j.xhgg.2021.100064
PMCID:
PMC8756487
AbstractArticlePDF–407K
20.
Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease
Jennifer C. Wong, Kameryn M. Butler, Lindsey Shapiro, Jacquelyn T. Thelin, Kari A. Mattison, Kathryn B. Garber, Paula C. Goldenberg, Shobana Kubendran, G. Bradley Schaefer, Andrew Escayg
Front Pharmacol. 2021; 12: 748415. Published online 2021 Nov 17. doi: 10.3389/fphar.2021.748415
PMCID:
PMC8635767
AbstractArticlePDF–2.3M

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