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Items: 1 to 20 of 36

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.
The International SCN8A Patient Registry: A Scientific Resource to Advance the Understanding and Treatment of a Rare Pediatric Neurodevelopmental Syndrome
Jennifer G. Andrews, Maureen Kelly Galindo, Joshua B. Hack, Joseph C. Watkins, Gabrielle A. Conecker, Michael F. Hammer, The SCN8A Research Consortium
J Registry Manag. 2023 Spring; 50(1): 4–10. Published online 2023 Mar 1.
PMCID:
PMC10414210
AbstractArticlePDF–399K
3.
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
4.
Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies
Alice M. Donnan, Amy L. Schneider, Sophie Russ-Hall, Leonid Churilov, Ingrid E. Scheffer
Neurology. 2023 Apr 18; 100(16): e1712–e1722. doi: 10.1212/WNL.0000000000207080
PMCID:
PMC10115508
AbstractArticlePDF–302K
5.
A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome
Pasquale Striano, Stéphane Auvin, Abigail Collins, Rita Horvath, Ingrid E. Scheffer, Michal Tzadok, Ian Miller, Mary Kay Koenig, Adrian Lacy, Ronald Davis, Angela Garcia‐Cazorla, Russell P. Saneto, Melanie Brandabur, Susan Blair, Tony Koutsoukos, Darryl De Vivo
Epilepsia. 2022 Jul; 63(7): 1748–1760. Published online 2022 May 21. doi: 10.1111/epi.17263
PMCID:
PMC9546029
AbstractArticlePDF–1.2M
6.
Defining Dravet syndrome: An essential pre‐requisite for precision medicine trials
Wenhui Li, Amy L. Schneider, Ingrid E. Scheffer
Epilepsia. 2021 Sep; 62(9): 2205–2217. Published online 2021 Aug 2. doi: 10.1111/epi.17015
PMCID:
PMC9291974
AbstractArticlePDF–1.5M
7.
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study
Dongfang Zou, Lin Wang, Jianxiang Liao, Hongdou Xiao, Jing Duan, Tongda Zhang, Jianbiao Li, Zhenzhen Yin, Jing Zhou, Haisheng Yan, Yushan Huang, Nianji Zhan, Ying Yang, Jingyu Ye, Fang Chen, Shida Zhu, Feiqiu Wen, Jian Guo
Brain. 2021 Dec; 144(12): 3623–3634. Published online 2021 Jun 19. doi: 10.1093/brain/awab233
PMCID:
PMC8719847
AbstractArticlePDF–514K
8.
Seizures in Sotos syndrome: Phenotyping in 49 patients
Olivier Fortin, Christian Vincelette, Afsheen Q. Khan, Saoussen Berrahmoune, Christelle Dassi, Mitra Karimi, Ingrid E. Scheffer, Jun Lu, Kellie Davis, Kenneth A. Myers
Epilepsia Open. 2021 Jun; 6(2): 425–430. Published online 2021 Apr 9. doi: 10.1002/epi4.12484
PMCID:
PMC8166795
AbstractArticlePDF–133K
9.
The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy
Alexandre N. Datta, Nadia Bahi‐Buisson, Thierry Bienvenu, Sarah E. Buerki, Fiona Gardiner, J. Helen Cross, Bénédicte Heron, Anna Kaminska, Christian M. Korff, Anne Lepine, Gaetan Lesca, Amy McTague, Heather C. Mefford, Cyrill Mignot, Matthieu Milh, Amélie Piton, Ronit M. Pressler, Susanne Ruf, Lynette G. Sadleir, Anne de Saint Martin, Koen Van Gassen, Nienke E. Verbeek, Dorothée Ville, Nathalie Villeneuve, Pia Zacher, Ingrid E. Scheffer, Johannes R. Lemke
Epilepsia. 2021 Feb; 62(2): 325–334. Published online 2021 Jan 7. doi: 10.1111/epi.16761
PMCID:
PMC7898319
AbstractArticlePDF–1.0M
10.
Determining the best candidates for next‐generation sequencing‐based gene panel for evaluation of early‐onset epilepsy
Jiwon Lee, Chung Lee, Chang‐Seok Ki, Jeehun Lee
Mol Genet Genomic Med. 2020 Sep; 8(9): e1376. Published online 2020 Jul 1. doi: 10.1002/mgg3.1376
PMCID:
PMC7507365
AbstractArticlePDF–1.0M
11.
Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy
Eric R. Wengert, Cathrine E. Tronhjem, Jacy L. Wagnon, Katrine M Johannesen, Hayley Petit, Ilona Krey, Anusha U. Saga, Payal S. Panchal, Samantha M. Strohm, Jörn Lange, Susanne B Kamphausen, Guido Rubboli, Johannes R. Lemke, Elena Gardella, Manoj K. Patel, Miriam H. Meisler, Rikke S. Møller
Epilepsia. Author manuscript; available in PMC 2020 Nov 1.
Published in final edited form as: Epilepsia. 2019 Nov; 60(11): 2277–2285. Published online 2019 Oct 17. doi: 10.1111/epi.16371
PMCID:
PMC6842408
AbstractArticlePDF–1.2M
12.
Increased Sensitivity to Agonist-Induced Seizures, Straub Tail, and Hippocampal Theta Rhythm in Knock-In Mice Carrying Hypersensitive α4 Nicotinic Receptors
Carlos Fonck, Raad Nashmi, Purnima Deshpande, M. Imad Damaj, Michael J. Marks, Anett Riedel, Johannes Schwarz, Allan C. Collins, Cesar Labarca, Henry A. Lester
J Neurosci. 2003 Apr 1; 23(7): 2582–2590. doi: 10.1523/JNEUROSCI.23-07-02582.2003
PMCID:
PMC6742094
AbstractArticlePDF–502K
13.
Novel Seizure Phenotype and Sleep Disruptions in Knock-In Mice with Hypersensitive α4* Nicotinic Receptors
Carlos Fonck, Bruce N. Cohen, Raad Nashmi, Paul Whiteaker, Daniel A. Wagenaar, Nivalda Rodrigues-Pinguet, Purnima Deshpande, Sheri McKinney, Steven Kwoh, Jose Munoz, Cesar Labarca, Allan C. Collins, Michael J. Marks, Henry A. Lester
J Neurosci. 2005 Dec 7; 25(49): 11396–11411. doi: 10.1523/JNEUROSCI.3597-05.2005
PMCID:
PMC6725918
AbstractArticlePDF–1.2M
14.
Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S2 Transmembrane Segment: Clinical, Genetic, and Functional Features
Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Francesco Miceli, Cristina Franco, Lorella Maria Teresa Canzoniero, Beth Kline-Fath, Edward C. Cooper, Charu Venkatesan, Maurizio Taglialatela
Int J Mol Sci. 2019 Jul; 20(14): 3382. Published online 2019 Jul 10. doi: 10.3390/ijms20143382
PMCID:
PMC6678645
AbstractArticlePDF–3.9M
15.
Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits
Cheng‐Chun Lee, I‐Ching Chou, Chang‐Hai Tsai, Lei Wan, Yu‐An Shu, Yuhsin Tsai, Tsai‐Chung Li, Fuu‐Jen Tsai
J Clin Lab Anal. 2007; 21(2): 67–70. Published online 2007 Mar 26. doi: 10.1002/jcla.20155
PMCID:
PMC6648989
AbstractArticlePDF–119K
16.
Mutation Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Alters Ca2+ Permeability, Conductance, and Gating of Human α4β2 Nicotinic Acetylcholine Receptors
Alexander Kuryatov, Volodymyr Gerzanich, Mark Nelson, Felix Olale, Jon Lindstrom
J Neurosci. 1997 Dec 1; 17(23): 9035–9047. doi: 10.1523/JNEUROSCI.17-23-09035.1997
PMCID:
PMC6573611
AbstractArticlePDF–345K
17.
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
AbstractArticlePDF–281K
18.
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
Anaïs Begemann, Mario A. Acuña, Markus Zweier, Marie Vincent, Katharina Steindl, Ruxandra Bachmann-Gagescu, Annette Hackenberg, Lucia Abela, Barbara Plecko, Judith Kroell-Seger, Alessandra Baumer, Kazuhiro Yamakawa, Yushi Inoue, Reza Asadollahi, Heinrich Sticht, Hanns Ulrich Zeilhofer, Anita Rauch
Mol Med. 2019; 25: 6. Published online 2019 Feb 27. doi: 10.1186/s10020-019-0073-6
PMCID:
PMC6391808
AbstractArticlePDF–3.6M
19.
16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability
Wen Li, Yifan Wang, Bin Li, Bin Tang, Hui Sun, Jinxing Lai, Na He, Bingmei Li, Heng Meng, Weiping Liao, Xiaorong Liu
Brain Behav. 2018 Nov; 8(11): e01134. Published online 2018 Oct 11. doi: 10.1002/brb3.1134
PMCID:
PMC6236233
AbstractArticlePDF–754K
20.
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity
Floriana Fruscione, Pierluigi Valente, Bruno Sterlini, Alessandra Romei, Simona Baldassari, Manuela Fadda, Cosimo Prestigio, Giorgia Giansante, Jacopo Sartorelli, Pia Rossi, Alicia Rubio, Antonio Gambardella, Thierry Nieus, Vania Broccoli, Anna Fassio, Pietro Baldelli, Anna Corradi, Federico Zara, Fabio Benfenati
Brain. 2018 Apr; 141(4): 1000–1016. Published online 2018 Mar 15. doi: 10.1093/brain/awy051
PMCID:
PMC5888929
AbstractArticlePDF–2.1M

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