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Items: 1 to 20 of 126

1.
NaV1.1 contributes to the cell cycle of human mesenchymal stem cells by regulating AKT and CDK2
Mohammed Fouad Zakaria, Hiroki Kato, Soichiro Sonoda, Kenichi Kato, Norihisa Uehara, Yukari Kyumoto-Nakamura, Mohammed Majd Sharifa, Liting Yu, Lisha Dai, Haruyoshi Yamaza, Shunichi Kajioka, Fusanori Nishimura, Takayoshi Yamaza
J Cell Sci. 2024 Oct 1; 137(19): jcs261732. Published online 2024 Oct 10. doi: 10.1242/jcs.261732
PMCID:
PMC11491812
AbstractArticle
2.
Association of SCN1A Polymorphisms rs3812718 and rs2298771 with Epilepsy
Martha-Spyridoula Katsarou, Anna Siatouni, Danae Tsikrika, Elena Kokkiou, Maria Stefanatou, Anastasia Verentzioti, Athanasia Alexoudi, Stylianos Gatzonis, Nikolaos Drakoulis, Maria Papasavva
Genes (Basel) 2024 Sep; 15(9): 1224. Published online 2024 Sep 19. doi: 10.3390/genes15091224
PMCID:
PMC11431656
AbstractArticlePDF–233K
3.
SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations
Danai Veltra, Virginia Theodorou, Marina Katsalouli, Pelagia Vorgia, Georgios Niotakis, Triantafyllia Tsaprouni, Roser Pons, Konstantina Kosma, Afroditi Kampouraki, Irene Tsoutsou, Periklis Makrythanasis, Kyriaki Kekou, Joanne Traeger-Synodinos, Christalena Sofocleous
Int J Mol Sci. 2024 Jun; 25(11): 5644. Published online 2024 May 22. doi: 10.3390/ijms25115644
PMCID:
PMC11171476
AbstractArticlePDF–1.4M
4.
Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome
Kerem Teralı, Ayberk Türkyılmaz, Safiye Güneş Sağer, Alper Han Çebi
Clin Transl Sci. 2024 Jan; 17(1): e13679. Published online 2023 Dec 6. doi: 10.1111/cts.13679
PMCID:
PMC10772300
AbstractArticlePDF–7.8M
5.
Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with Genetic Epilepsy and Febrile Seizures Plus (GEFS+)
Michael F. Hammer, Yanling Pan, Medhane Cumbay, Manuela Pendziwiat, Zaid Afawi, Hadassah Goldberg-Stern, Laurel Johnstone, Ingo Helbig, Theodore R. Cummins
Epilepsia. Author manuscript; available in PMC 2023 Dec 28.
Published in final edited form as: Epilepsia. 2022 Aug; 63(8): 1970–1980. Published online 2022 Jun 5. doi: 10.1111/epi.17296
PMCID:
PMC10753192
AbstractArticlePDF–1.6M
6.
SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes
Eline J H van Hugte, Elly I Lewerissa, Ka Man Wu, Nicky Scheefhals, Giulia Parodi, Torben W van Voorst, Sofia Puvogel, Naoki Kogo, Jason M Keller, Monica Frega, Dirk Schubert, Helenius J Schelhaas, Judith Verhoeven, Marian Majoie, Hans van Bokhoven, Nael Nadif Kasri
Brain. 2023 Dec; 146(12): 5153–5167. Published online 2023 Jul 19. doi: 10.1093/brain/awad245
PMCID:
PMC10689919
AbstractArticlePDF–1.4M
7.
Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome
Matteo Lenge, Simona Balestrini, Davide Mei, Letizia Macconi, Maria Eugenia Caligiuri, Valeria Cuccarini, Domenico Aquino, Federica Mazzi, Ludovico d’Incerti, Francesca Darra, Bernardo Dalla Bernardina, Renzo Guerrini
Cereb Cortex. 2023 Aug 15; 33(16): 9532–9541. Published online 2023 Jun 21. doi: 10.1093/cercor/bhad224
PMCID:
PMC10431750
AbstractArticlePDF–999K
8.
Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?
Alessia Azzarà, Ilaria Cassano, Carla Lintas, Fabio Pilato, Fioravante Capone, Vincenzo Di Lazzaro, Fiorella Gurrieri
Genes (Basel) 2023 Jul; 14(7): 1482. Published online 2023 Jul 20. doi: 10.3390/genes14071482
PMCID:
PMC10378782
AbstractArticlePDF–670K
9.
SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions
Susanna Pagni, Helena Martins Custodio, Adam Frankish, Jonathan M Mudge, James D Mills, Sanjay M Sisodiya
Hum Mol Genet. 2023 May 15; 32(10): 1753–1763. Published online 2023 Jan 28. doi: 10.1093/hmg/ddad015
Correction in:
Hum Mol Genet. 2023 Jun 1; 32(11): 1944.
PMCID:
PMC10162429
AbstractArticlePDF–1.4M
10.
SCN1A gain-of-function mutation causing an early-onset epileptic encephalopathy
Jérôme Clatot, Shridhar Parthasarathy, Stacey Cohen, Jillian McKee, Shavonne Massey, Ala Somarowthu, Ethan M. Goldberg, Ingo Helbig
Epilepsia. Author manuscript; available in PMC 2024 May 1.
Published in final edited form as: Epilepsia. 2023 May; 64(5): 1318–1330. Published online 2022 Nov 14. doi: 10.1111/epi.17444
PMCID:
PMC10130239
AbstractArticlePDF–1.4M
11.
De novo Y1460C missense variant in NaV1.1 impedes the pore region and results in epileptic encephalopathy
Quentin Plumereau, Aya Ebdalla, Hugo Poulin, Juan Pablo Appendino, Morris H. Scantlebury, Ping Yee Billie Au, Mohamed Chahine
Sci Rep. 2022; 12: 17182. Published online 2022 Oct 13. doi: 10.1038/s41598-022-22208-x
PMCID:
PMC9561119
AbstractArticlePDF–1.3M
12.
Polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (SCN1A -A3184G) gene among children with non-lesional epilepsy: a case-control study
Esraa Ghazala, Doaa A. Shahin, Yahya Wahba
Ital J Pediatr. 2022; 48: 157. Published online 2022 Sep 2. doi: 10.1186/s13052-022-01350-2
PMCID:
PMC9438243
AbstractArticlePDF–1.0M
13.
Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population
Mansour A. Alghamdi, Laith N. AL-Eitan, Ashwag Asiri, Doaa M. Rababa’h, Sultan A. Alqahtani, Mohammed S. Aldarami, Manar A. Alsaeedi, Raghad S. Almuidh, Abdulbari A. Alzahrani, Ahmad H. Sakah, Eman Mohamad El Nashar, Mansour Y. Otaif, Nawal F. Abdel Ghaffar
Ann Med. 2022; 54(1): 1938–1951. Published online 2022 Jul 8. doi: 10.1080/07853890.2022.2096257
PMCID:
PMC9367647
AbstractArticlePDF–1.2M
14.
SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families
Diana M. Cornejo-Sanchez, Anushree Acharya, Thashi Bharadwaj, Lizeth Marin-Gomez, Pilar Pereira-Gomez, Liz M. Nouel-Saied, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Michael J. Bamshad, Heather C. Mefford, Isabelle Schrauwen, Jaime Carrizosa-Moog, William Cornejo-Ochoa, Nicolas Pineda-Trujillo, Suzanne M. Leal
Genes (Basel) 2022 May; 13(5): 754. Published online 2022 Apr 25. doi: 10.3390/genes13050754
PMCID:
PMC9140479
AbstractArticlePDF–848K
15.
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies
Andreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, Ji Xinge, Eva Brilstra, Berten Ceulemans, Nicole Chemaly, Iris de Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An-Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Michael W. Kattan, Sameer M. Zuberi, Dennis Lal
Neurology. 2022 Mar 15; 98(11): e1163–e1174. doi: 10.1212/WNL.0000000000200028
PMCID:
PMC8935441
AbstractArticlePDF–780K
16.
Genetic and Functional Differences between Duplicated Zebrafish Genes for Human SCN1A
Wout J. Weuring, Jos W. Hoekman, Kees P. J. Braun, Bobby P. C. Koeleman
Cells. 2022 Feb; 11(3): 454. Published online 2022 Jan 28. doi: 10.3390/cells11030454
PMCID:
PMC8834172
AbstractArticlePDF–3.0M
17.
Proteome‐scale mapping of binding sites in the unstructured regions of the human proteome
Caroline Benz, Muhammad Ali, Izabella Krystkowiak, Leandro Simonetti, Ahmed Sayadi, Filip Mihalic, Johanna Kliche, Eva Andersson, Per Jemth, Norman E Davey, Ylva Ivarsson
Mol Syst Biol. 2022 Jan; 18(1): e10584. Published online 2022 Jan 19. doi: 10.15252/msb.202110584
PMCID:
PMC8769072
AbstractArticlePDF–2.9M
18.
High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes
Anna Ka‐Yee Kwong, Virginia Chun‐Nei Wong, Sheila Suet‐Na Wong, Vanessa Loi‐Yan Chu, Saskia Koene, Jan Smeitink, Cheuk‐Wing Fung
Epilepsia Open. 2021 Dec; 6(4): 685–693. Published online 2021 Sep 29. doi: 10.1002/epi4.12534
PMCID:
PMC8633467
AbstractArticlePDF–316K
19.
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes
Dana Jaber, Cyril Gitiaux, Sophie Blesson, Florent Marguet, David Buard, Maritzaida Varela Salgado, Anna Kaminska, Julien Saada, Catherine Fallet-Bianco, Jelena Martinovic, Annie Laquerriere, Judith Melki
J Med Genet. 2021 Nov; 58(11): 737–742. Published online 2020 Sep 14. doi: 10.1136/jmedgenet-2020-107166
PMCID:
PMC8551978
AbstractArticlePDF–1.0M
20.
Clinical spectrum and the comorbidities of Dravet syndrome in Taiwan and the possible molecular mechanisms
Chia-Hsuan Huang, Pi-Lien Hung, Pi-Chuan Fan, Kuang-Lin Lin, Ting-Rong Hsu, I-Jun Chou, Che-Sheng Ho, I-Ching Chou, Wei-Sheng Lin, Inn-Chi Lee, Hueng-Chuen Fan, Shyi-Jou Chen, Jao-Shwann Liang, Yi-Fang Tu, Tung-Ming Chang, Su-Ching Hu, Lee-Chin Wong, Kun-Long Hung, Wang-Tso Lee
Sci Rep. 2021; 11: 20242. Published online 2021 Oct 12. doi: 10.1038/s41598-021-98517-4
PMCID:
PMC8511137
AbstractArticlePDF–1.2M

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