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Select item 111714761.

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

Abstract Article PDF–1.4M

Select item 107723002.

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

Abstract Article PDF–7.8M

Select item 107531923.

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

Abstract Article PDF–1.6M

Select item 106899194.

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

Abstract Article PDF–1.4M

Select item 104317505.

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

Abstract Article PDF–999K

Select item 103787826.

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

Abstract Article PDF–670K

Select item 101624297.

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

Abstract Article PDF–1.4M

Select item 101302398.

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

Abstract Article PDF–1.4M

Select item 95611199.

De novo Y1460C missense variant in Na_V1.1 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

Abstract Article PDF–1.3M

Select item 943824310.

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

Abstract Article PDF–1.0M

Select item 936764711.

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

Abstract Article PDF–1.2M

Select item 914047912.

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

Abstract Article PDF–848K

Select item 893544113.

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

Abstract Article PDF–780K

Select item 883417214.

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

Abstract Article PDF–3.0M

Select item 876907215.

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

Abstract Article PDF–2.9M

Select item 863346716.

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

Abstract Article PDF–316K

Select item 855197817.

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

Abstract Article PDF–1.0M

Select item 851113718.

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

Abstract Article PDF–1.2M

Select item 834589519.

Modeling Na_V1.1/SCN1A sodium channel mutations in a microcircuit with realistic ion concentration dynamics suggests differential GABAergic mechanisms leading to hyperexcitability in epilepsy and hemiplegic migraine

Louisiane Lemaire, Mathieu Desroches, Martin Krupa, Lara Pizzamiglio, Paolo Scalmani, Massimo Mantegazza

PLoS Comput Biol. 2021 Jul; 17(7): e1009239. Published online 2021 Jul 27. doi: 10.1371/journal.pcbi.1009239

PMCID:: PMC8345895

Abstract Article PDF–3.8M

Select item 798044820.

Comparative structural analysis of human Na_v1.1 and Na_v1.5 reveals mutational hotspots for sodium channelopathies

Xiaojing Pan, Zhangqiang Li, Xueqin Jin, Yanyu Zhao, Gaoxingyu Huang, Xiaoshuang Huang, Zilin Shen, Yong Cao, Mengqiu Dong, Jianlin Lei, Nieng Yan

Proc Natl Acad Sci U S A. 2021 Mar 16; 118(11): e2100066118. Published online 2021 Mar 12. doi: 10.1073/pnas.2100066118

PMCID:: PMC7980448

Abstract Article PDF–1.3M

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