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Items: 1 to 20 of 234

1.
Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders
Tiantian Xiao, Xiang Chen, Yan Xu, Huiyao Chen, Xinran Dong, Lin Yang, Bingbing Wu, Liping Chen, Long Li, Deyi Zhuang, Dongmei Chen, Yuanfeng Zhou, Huijun Wang, Wenhao Zhou
Front Mol Neurosci. 2022; 15: 809810. Published online 2022 Apr 26. doi: 10.3389/fnmol.2022.809810
PMCID:
PMC9088225
ArticlePubReaderPDF–510KCite
2.
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van-Gils, Cyril Goizet, Marjolein H. Willemsen, Tjitske Kleefstra, Rikke S Møller, Allan Bayat, Orrin Devinsky, Tristan Sands, G. Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva Brilstra, Gaetan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen
eBioMedicine. 2022 Jul; 81: 104130. Published online 2022 Jun 30. doi: 10.1016/j.ebiom.2022.104130
PMCID:
PMC9254340
ArticlePubReaderPDF–2.1MCite
3.
Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder
Yan Xu, Ya-lan Dou, Xiang Chen, Xin-ran Dong, Xin-hua Wang, Bing-bing Wu, Guo-qiang Cheng, Yuan-feng Zhou
BMC Pediatr. 2021; 21: 477. Published online 2021 Oct 28. doi: 10.1186/s12887-021-02946-z
PMCID:
PMC8555078
ArticlePubReaderPDF–1.6MCite
4.
The Role of Kv7.2 in Neurodevelopment: Insights and Gaps in Our Understanding
Nina Dirkx, Francesco Miceli, Maurizio Taglialatela, Sarah Weckhuysen
Front Physiol. 2020; 11: 570588. Published online 2020 Oct 28. doi: 10.3389/fphys.2020.570588
PMCID:
PMC7657400
ArticlePubReaderPDF–1.3MCite
5.
KCNQ2-Neonatal Epileptic Encephalopathy Complicated by Ventricular Tachycardia: A Case Report
Yuehang Geng, Xinlin Hou
Front Neurol. 2020; 11: 263. Published online 2020 Apr 17. doi: 10.3389/fneur.2020.00263
PMCID:
PMC7180217
ArticlePubReaderPDF–604KCite
6.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B
Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Diana Baralle, Tim Vanderhasselt, Katrien Stouffs, Kathelijn Keymolen, Sukhan Kim, James Allen, Gil Shaulsky, Jamel Chelly, Pascale Marcorelle, Jacqueline Aziza, Laurent Villard, Elise Sacaze, Marie C Y de Wit, Martina Wilke, Grazia Maria Simonetta Mancini, Ute Hehr, Derek Lim, Sahar Mansour, Stephen F Traynelis, Claire Beneteau, Marie Denis-Musquer, Anna C Jansen, Andrew E Fry, Nadia Bahi-Buisson
J Med Genet. Author manuscript; available in PMC 2023 Nov 13.
Published in final edited form as: J Med Genet. 2023 Feb; 60(2): 183–192. Published online 2022 Apr 7. doi: 10.1136/jmedgenet-2021-107971
PMCID:
PMC10642159
ArticlePubReaderPDF–1.1MCite
7.
Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy
Savaş Bariş, Serkan Kırık, Özgür Balasar
Rev Assoc Med Bras (1992) 2023; 69(10): e20230547. Published online 2023 Oct 9. doi: 10.1590/1806-9282.20230547
PMCID:
PMC10561910
ArticlePubReaderPDF–227KCite
8.
Rates of rare copy number variants in different circumstances among patients with genetic developmental and epileptic encephalopathy
Sanghoon Lee, Bo Ram Kim, Young Ok Kim
Sci Prog. 2022 Oct-Dec; 105(4): 00368504221131233. Published online 2022 Oct 11. doi: 10.1177/00368504221131233
PMCID:
PMC10481157
ArticlePubReaderPDF–667KCite
9.
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome
Nicola Specchio, Marina Trivisano, Matteo Lenge, Alessandro Ferretti, Davide Mei, Elena Parrini, Antonio Napolitano, Camilla Rossi-Espagnet, Giacomo Talenti, Daniela Longo, Jacopo Proietti, Francesca Ragona, Elena Freri, Roberta Solazzi, Tiziana Granata, Francesca Darra, Bernardo Dalla Bernardina, Federico Vigevano, Renzo Guerrini
Cereb Cortex. 2023 Sep 1; 33(17): 9709–9717. Published online 2023 Jul 10. doi: 10.1093/cercor/bhad235
PMCID:
PMC10472491
ArticlePubReaderPDF–835KCite
10.
Vaccination against COVID‐19 and potential protective effects on seizure recurrence in children with epilepsy: A cross‐sectional survey
Congjie Chen, Ningning Chen, Li Xie, Yuanyuan Luo, Jiannan Ma, Tingsong Li
Epilepsia Open. 2023 Sep; 8(3): 1133–1141. Published online 2023 Jul 28. doi: 10.1002/epi4.12794
PMCID:
PMC10472363
ArticlePubReaderPDF–420KCite
11.
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini, Alessio Masi, Sophie Hambleton, Emanuela Argilli, Valerio Conti, Simone Giubbolini, Rebekah Barrick, Gaber Bergant, Karin Writzl, Emilia K. Bijlsma, Theresa Brunet, Pilar Cacheiro, Davide Mei, Anita Devlin, Mariëtte J.V. Hoffer, Keren Machol, Guido Mannaioni, Masamune Sakamoto, Manoj P. Menezes, Thomas Courtin, Elliott Sherr, Riccardo Parra, Ruth Richardson, Tony Roscioli, Marcello Scala, Celina von Stülpnagel, Damian Smedley, TMEM63B collaborators, The Genomics England Research Consortium, Annalaura Torella, Jun Tohyama, Reiko Koichihara, Keisuke Hamada, Kazuhiro Ogata, Takashi Suzuki, Atsushi Sugie, Jasper J. van der Smagt, Koen van Gassen, Stephanie Valence, Emma Vittery, Stephen Malone, Mitsuhiro Kato, Naomichi Matsumoto, Gian Michele Ratto, Renzo Guerrini
Am J Hum Genet. 2023 Aug 3; 110(8): 1356–1376. Published online 2023 Jul 7. doi: 10.1016/j.ajhg.2023.06.008
PMCID:
PMC10432263
ArticlePubReaderPDF–5.6MCite
12.
Efficacy of perampanel in pediatric epilepsy with known and presumed genetic etiology
Pu Miao, Xueying Zhu, Wenqin Jin, Lingyan Yu, Yanfang Li, Ye Wang, Qunyan Su, Sha Xu, Shuang Wang, Jianhua Feng
Ann Clin Transl Neurol. 2023 Aug; 10(8): 1374–1382. Published online 2023 Jun 16. doi: 10.1002/acn3.51828
PMCID:
PMC10424658
ArticlePubReaderPDF–1003KCite
13.
A novel SCN8A variant of unknown significance in pediatric epilepsy: a case report
Wafaa Bouzroud, Amal Tazzite, Ikhlass Boussakri, Bouchaïb Gazzaz, Hind Dehbi
J Int Med Res. 2023 Jul; 51(7): 03000605231187931. Published online 2023 Jul 27. doi: 10.1177/03000605231187931
PMCID:
PMC10387795
ArticlePubReaderPDF–915KCite
14.
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability
Carla Lintas, Angelo Facchiano, Alessia Azzarà, Ilaria Cassano, Claudio Tabolacci, Cinzia Galasso, Fiorella Gurrieri
Genes (Basel) 2023 Jul; 14(7): 1353. Published online 2023 Jun 27. doi: 10.3390/genes14071353
PMCID:
PMC10379032
ArticlePubReaderPDF–2.4MCite
15.
Functional characterization and in vitro pharmacological rescue of KCNQ2 pore mutations associated with epileptic encephalopathy
Gui-mei Yang, Fu-yun Tian, Yan-wen Shen, Chuan-yan Yang, Hui Yuan, Ping Li, Zhao-bing Gao
Acta Pharmacol Sin. 2023 Aug; 44(8): 1589–1599. Published online 2023 Mar 17. doi: 10.1038/s41401-023-01073-y
PMCID:
PMC10374643
ArticlePubReaderPDF–2.8MCite
16.
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy
Hyun Yong Koh, Lacey Smith, Kimberly N. Wiltrout, Archana Podury, Nitish Chourasia, Alissa M. D’Gama, Meredith Park, Devon Knight, Emma L. Sexton, Julia J. Koh, Brandon Oby, Rebecca Pinsky, Diane D. Shao, Courtney E. French, Wanqing Shao, Shira Rockowitz, Piotr Sliz, Bo Zhang, Sonal Mahida, Christelle Moufawad El Achkar, Christopher J. Yuskaitis, Heather E. Olson, Beth Rosen Sheidley, Annapurna H. Poduri
JAMA Netw Open. 2023 Jul; 6(7): e2324380. Published online 2023 Jul 20. doi: 10.1001/jamanetworkopen.2023.24380
PMCID:
PMC10359957
ArticlePubReaderCite
17.
Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies
Olivia J. Henry, Tommy Stödberg, Sofia Båtelson, Chiara Rasi, Henrik Stranneheim, Anna Wedell
Mol Genet Genomic Med. 2023 Jul; 11(7): e2167. Published online 2023 Mar 26. doi: 10.1002/mgg3.2167
PMCID:
PMC10337286
ArticlePubReaderPDF–2.1MCite
18.
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
Gianluca D’Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Barišić, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petković Ramadža, Ivo Barić, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Rivière, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Nagy
Hum Genet. 2023; 142(7): 909–925. Published online 2023 May 14. doi: 10.1007/s00439-023-02552-2
PMCID:
PMC10329570
ArticlePubReaderPDF–1.6MCite
19.
A registry for Dravet syndrome: The Italian experience
Simona Balestrini, Viola Doccini, Sabrina Giometto, Ersilia Lucenteforte, Salvatore De Masi, Elisa Giarola, Isabella Brambilla, Federica Pieroni, Marco Perulli, Domenica Battaglia, Nicola Specchio, Francesca Ragona, Tiziana Granata, Simona Pellacani, Annarita Ferrari, Carla Marini, Sara Matricardi, Elisabetta Cesaroni, Lucio Giordano, Patrizia Accorsi, Vittorio Sciruicchio, Paolo Tinuper, Tullio Messana, Angelo Russo, Dario Pruna, Margherita Nosadini, Valentina De Giorgis, Davide Caputo, Residras Collaboration Group, Serena Pellegrin, Tommaso Lo Barco, Francesca Darra, Bernardo Dalla Bernardina, Renzo Guerrini
Epilepsia Open. 2023 Jun; 8(2): 517–534. Published online 2023 Mar 30. doi: 10.1002/epi4.12730
PMCID:
PMC10235582
ArticlePubReaderPDF–3.5MCite
20.
PRRT2‐positive self‐limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers
Jiwon Lee, Young Ok Kim, Byung Chan Lim, Jeehun Lee
Epilepsia Open. 2023 Jun; 8(2): 436–443. Published online 2023 Feb 20. doi: 10.1002/epi4.12708
PMCID:
PMC10235569
ArticlePubReaderPDF–660KCite

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