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Items: 1 to 20 of 54

1.
Expanding the genotype-phenotype spectrum in SCN8A-related disorders
Malavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, Cyrus Boelman, Richard A. Dean, Samuel J. Goodchild, Janette Mezeyova, Noah Gregory Shuart, J. P. Johnson, Jr., James Lee, Aspasia Michoulas, Linda L. Huh, Linlea Armstrong, Mary B. Connolly, Michelle K. Demos
BMC Neurol. 2024; 24: 31. Published online 2024 Jan 17. doi: 10.1186/s12883-023-03478-y
PMCID:
PMC10792783
AbstractArticlePDF–1.1M
2.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Katrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina D Fenger, Ahmed Eltokhi, Maert Rannap, Nils A Koch, Stephan Lauxmann, Johanna Krüger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Thomas Mayer, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Sterbova, Petra Lassuthová, Marketa Vlckova, Johannes R Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P Y Billie Au, Jong M Rho, Alice W Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina E Hoei-Hansen, Pasquale Striano, Federico Zara, Helene Verhelst, Judith S Verhoeven, Hilde M H Braakman, Bert van der Zwaag, Aster V E Harder, Eva Brilstra, Manuela Pendziwiat, Sebastian Lebon, Maria Vaccarezza, Ngoc Minh Le, Jakob Christensen, Sabine Grønborg, Stephen W Scherer, Jennifer Howe, Walid Fazeli, Katherine B Howell, Richard Leventer, Chloe Stutterd, Sonja Walsh, Marion Gerard, Bénédicte Gerard, Sara Matricardi, Claudia M Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman-Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vøllo, M Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cecilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gélisse, Carla Marini, Renzo Guerrini, Frederic Bilan, Daniel Tibussek, Margarete Koch-Hogrebe, M Scott Perry, Shoji Ichikawa, Elena Dadali, Artem Sharkov, Irina Mishina, Mikhail Abramov, Ilya Kanivets, Sergey Korostelev, Sergey Kutsev, Karen E Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M Savatt, Karen Müller-Schlüter, Haim Bassan, Artem Borovikov, Marie Cecile Nassogne, Anne Destrée, An Sofie Schoonjans, Marije Meuwissen, Marga Buzatu, Anna Jansen, Emmanuel Scalais, Siddharth Srivastava, Wen Hann Tan, Heather E Olson, Tobias Loddenkemper, Annapurna Poduri, Katherine L Helbig, Ingo Helbig, Mark P Fitzgerald, Ethan M Goldberg, Timo Roser, Ingo Borggraefe, Tobias Brünger, Patrick May, Dennis Lal, Damien Lederer, Guido Rubboli, Henrike O Heyne, Gaetan Lesca, Ulrike B S Hedrich, Jan Benda, Elena Gardella, Holger Lerche, Rikke S Møller
Brain. 2022 Sep; 145(9): 2991–3009. Published online 2021 Aug 25. doi: 10.1093/brain/awab321
PMCID:
PMC10147326
AbstractArticlePDF–1.8M
3.
Gain‐of‐function mutation Met136Val in SCN8A may not be a common cause of trigeminal neuralgia
Raymond F. Sekula, Kathleen Deeley, Hayley Denwood, Alexandre R. Vieira
Mol Genet Genomic Med. 2021 Feb; 9(2): e1587. Published online 2021 Jan 11. doi: 10.1002/mgg3.1587
PMCID:
PMC8077135
AbstractArticlePDF–134K
4.
Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons
Andrew M Tidball, Luis F Lopez-Santiago, Yukun Yuan, Trevor W Glenn, Joshua L Margolis, J Clayton Walker, Emma G Kilbane, Christopher A Miller, E Martina Bebin, M Scott Perry, Lori L Isom, Jack M Parent
Brain. 2020 Oct; 143(10): 3025–3040. Published online 2020 Sep 24. doi: 10.1093/brain/awaa247
PMCID:
PMC7780473
AbstractArticlePDF–1.2M
5.
Distinct functional alterations in SCN8A epilepsy mutant channels
Yanling Pan, Theodore R. Cummins
J Physiol. Author manuscript; available in PMC 2021 Jan 1.
Published in final edited form as: J Physiol. 2020 Jan; 598(2): 381–401. Published online 2019 Dec 31. doi: 10.1113/JP278952
PMCID:
PMC7216308
AbstractArticlePDF–1.8M
6.
S-Palmitoylation of the sodium channel Nav1.6 regulates its activity and neuronal excitability
Yanling Pan, Yucheng Xiao, Zifan Pei, Theodore R. Cummins
J Biol Chem. 2020 May 1; 295(18): 6151–6164. Published online 2020 Mar 11. doi: 10.1074/jbc.RA119.012423
PMCID:
PMC7196649
AbstractArticlePDF–2.8M
7.
SCN8A encephalopathy: Mechanisms and Models
Miriam Meisler
Epilepsia. Author manuscript; available in PMC 2020 Dec 1.
Published in final edited form as: Epilepsia. 2019 Dec; 60(Suppl 3): S86–S91. doi: 10.1111/epi.14703
PMCID:
PMC6953611
AbstractArticlePDF–760K
8.
Partial loss‐of‐function of sodium channel SCN8A in familial isolated myoclonus
Jacy L. Wagnon, Niccolò E. Mencacci, Bryan S. Barker, Eric R. Wengert, Kailash P. Bhatia, Bettina Balint, Miryam Carecchio, Nicholas W. Wood, Manoj K. Patel, Miriam H. Meisler
Hum Mutat. 2018 Jul; 39(7): 965–969. Published online 2018 May 17. doi: 10.1002/humu.23547
PMCID:
PMC6032947
AbstractArticlePDF–453K
9.
De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy
Epilepsy Genetics Initiative
Genet Med. 2018 Feb; 20(2): 275–281. Published online 2017 Oct 2. doi: 10.1038/gim.2017.100
PMCID:
PMC5823708
AbstractArticlePDF–259K
10.
SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures
Jiaping Wang, Hua Gao, Xinhua Bao, Qingping Zhang, Jiarui Li, Liping Wei, Xiru Wu, Yan Chen, Shujie Yu
BMC Med Genet. 2017; 18: 104. Published online 2017 Sep 18. doi: 10.1186/s12881-017-0460-1
PMCID:
PMC5604297
AbstractArticlePDF–1.4M
11.
De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis
Kameryn M. Butler, Cristina da Silva, Yuval Shafir, James D. Weisfeld-Adams, John J. Alexander, Madhuri Hegde, Andrew Escayg
Epilepsy Res. Author manuscript; available in PMC 2018 Jan 1.
Published in final edited form as: Epilepsy Res. 2017 Jan; 129: 17–25. Published online 2016 Nov 6. doi: 10.1016/j.eplepsyres.2016.11.002
PMCID:
PMC5321682
AbstractArticlePDF–695K
12.
The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin
Bryan S. Barker, Matteo Ottolini, Jacy L. Wagnon, Rachel Hollander, Miriam H. Meisler, Manoj K. Patel
Epilepsia. Author manuscript; available in PMC 2017 Sep 1.
Published in final edited form as: Epilepsia. 2016 Sep; 57(9): 1458–1466. Published online 2016 Jul 4. doi: 10.1111/epi.13461
PMCID:
PMC5012949
AbstractArticlePDF–1.1M
13.
Aberrant epilepsy-associated mutant Nav1.6 sodium channel activity can be targeted with cannabidiol
Reesha R. Patel, Cindy Barbosa, Tatiana Brustovetsky, Nickolay Brustovetsky, Theodore R. Cummins
Brain. 2016 Aug; 139(8): 2164–2181. Published online 2016 Jun 5. doi: 10.1093/brain/aww129
PMCID:
PMC4958898
AbstractArticlePDF–1.9M
14.
The phenotypic spectrum of SCN8A encephalopathy
Jan Larsen, Gemma L. Carvill, Elena Gardella, Gerhard Kluger, Gudrun Schmiedel, Nina Barisic, Christel Depienne, Eva Brilstra, Yuan Mang, Jens Erik Klint Nielsen, Martin Kirkpatrick, David Goudie, Rebecca Goldman, Johanna A. Jähn, Birgit Jepsen, Deepak Gill, Miriam Döcker, Saskia Biskup, Jacinta M. McMahon, Bobby Koeleman, Mandy Harris, Kees Braun, Carolien G.F. de Kovel, Carla Marini, Nicola Specchio, Tania Djémié, Sarah Weckhuysen, Niels Tommerup, Monica Troncoso, Ledia Troncoso, Andrea Bevot, Markus Wolff, Helle Hjalgrim, Renzo Guerrini, Ingrid E. Scheffer, Heather C. Mefford, Rikke S. Møller, ‡On behalf of the EuroEPINOMICS RES Consortium CRP
Neurology. 2015 Feb 3; 84(5): 480–489. doi: 10.1212/WNL.0000000000001211
PMCID:
PMC4336074
AbstractArticlePDF–526K
15.
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy
Mark Estacion, Janelle E. O’Brien, Allison Conravey, Michael F. Hammer, Stephen G. Waxman, Sulayman D. Dib-Hajj, Miriam H. Meisler
Neurobiol Dis. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: Neurobiol Dis. 2014 Sep; 69: 117–123. Published online 2014 May 27. doi: 10.1016/j.nbd.2014.05.017
PMCID:
PMC4124819
AbstractArticlePDF–785K
16.
Bioluminescence Methodology for the Detection of Protein–Protein Interactions Within the Voltage-Gated Sodium Channel Macromolecular Complex
Alexander Shavkunov, Neli Panova, Anesh Prasai, Ron Veselenak, Nigel Bourne, Svetla Stoilova-McPhie, Fernanda Laezza
Assay Drug Dev Technol. 2012 Apr; 10(2): 148–160. doi: 10.1089/adt.2011.413
PMCID:
PMC3362325
AbstractArticlePDF–674K
17.
De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP
Krishna R. Veeramah, Janelle E. O'Brien, Miriam H. Meisler, Xiaoyang Cheng, Sulayman D. Dib-Hajj, Stephen G. Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E. Eichler, Linda L. Restifo, Robert P. Erickson, Michael F. Hammer
Am J Hum Genet. 2012 Mar 9; 90(3): 502–510. doi: 10.1016/j.ajhg.2012.01.006
PMCID:
PMC3309181
AbstractArticlePDF–458K
18.
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects
Miriam H Meisler, Janelle E O’Brien, Lisa M Sharkey
J Physiol. 2010 Jun 1; 588(Pt 11): 1841–1848. Published online 2010 Mar 29. doi: 10.1113/jphysiol.2010.188482
PMCID:
PMC2901972
AbstractArticlePDF–398K
19.
Evaluation of SCN8A as a Candidate Gene for Autosomal Dominant Essential Tremor
Lisa M. Sharkey, Julie M Jones, Peter Hedera, Miriam H. Meisler
Parkinsonism Relat Disord. Author manuscript; available in PMC 2010 May 27.
Published in final edited form as: Parkinsonism Relat Disord. 2009 May; 15(4): 321–323. Published online 2008 Aug 20. doi: 10.1016/j.parkreldis.2008.06.010
PMCID:
PMC2877193
AbstractArticlePDF–357K
20.
Coupling of Slack and NaV1.6 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
AbstractArticlePDF–24M

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