| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jiahao Zhu, Jieluan Lu, Xianhuan Shen, Yaodong He, Hanbing Xia, Wenzhou Li, Huijuan Guo, Jianping Zhang, Xiaomei Fa. SCN1A Polymorphisms and Haplotypes Are Associated With Valproic Acid Treatment Outcomes in Chinese Children With Epilepsy. Pediatric neurology. vol 146. 2023-07-14. PMID:37451178. |
the aim of this study was to explore the association of scn1a polymorphisms with efficacy and adverse drug reactions (adrs) related to valproic acid (vpa) among chinese children with epilepsy. |
2023-07-14 |
2023-08-14 |
Not clear |
| Mustafa Q Hameed, Benjamin Hui, Rui Lin, Paul C MacMullin, Andres Pascual-Leone, Sheryl Anne D Vermudez, Alexander Rotenber. Depressed glutamate transporter 1 expression in a mouse model of Dravet syndrome. Annals of clinical and translational neurology. 2023-07-14. PMID:37452008. |
dravet syndrome (ds) is a monogenic, often refractory, epilepsy resultant from scn1a haploinsufficiency in humans. |
2023-07-14 |
2023-08-14 |
mouse |
| Yukimune Okubo, Moriei Shibuya, Haruhiko Nakamura, Aritomo Kawashima, Kaori Kodama, Wakaba Endo, Takehiko Inui, Noriko Togashi, Yu Aihara, Matsuyuki Shirota, Ryo Funayama, Tetsuya Niihori, Atsushi Fujita, Keiko Nakayama, Yoko Aoki, Naomichi Matsumoto, Shigeo Kure, Atsuo Kikuchi, Kazuhiro Haginoy. Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A. Brain & development. 2023-07-13. PMID:37442734. |
variants of scn1a represent the archetypal channelopathy associated with several epilepsy syndromes. |
2023-07-13 |
2023-08-14 |
Not clear |
| Ayberk Türkyılmaz, Emine Tekin, Oğuzhan Yaralı, Alper Han Çeb. SCN1A Pathogenic Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome. Epileptic disorders : international epilepsy journal with videotape. 2023-07-11. PMID:37430418. |
the α subunit of voltage-gated sodium channels in mammals is encoded by nine different genes, and the mutations in the scn1a, scn2a, scn3a and scn8a genes highly expressed in the cns have been associated with epilepsy phenotypes. |
2023-07-11 |
2023-08-14 |
Not clear |
| b' Ma\\xc5\\xa1a Kova\\xc4\\x8devi\\xc4\\x87, Ognjen Mili\\xc4\\x87evi\\xc4\\x87, Marija Brankovi\\xc4\\x87, Milena Jankovi\\xc4\\x87, Ivana Novakovi\\xc4\\x87, Dragoslav Soki\\xc4\\x87, Aleksandar Risti\\xc4\\x87, Jannah Shamsani, Nikola Vojvodi\\xc4\\x8. Novel variants in established epilepsy genes in focal epilepsy. Seizure. vol 110. 2023-06-30. PMID:37390664.' |
our aim was to determine the yield of targeted sequencing of 5 established epilepsy genes (depdc5, lgi1, scn1a, grin2a, and pchd19) in an extensively phenotyped cohort of focal epilepsy patients with normal intellectual function or mild intellectual disability, as well as describe novel variants and determine the characteristics of variant carriers. |
2023-06-30 |
2023-08-14 |
Not clear |
| 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 Guerrin. Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome. Cerebral cortex (New York, N.Y. : 1991). 2023-06-21. PMID:37344172. |
mutations of the voltage-gated sodium channel scn1a gene (mim#182389) are among the most clinically relevant epilepsy-related genetic mutations and present variable phenotypes, from the milder genetic epilepsy with febrile seizures plus to dravet syndrome, a severe developmental and epileptic encephalopathy. |
2023-06-21 |
2023-08-14 |
Not clear |
| Goske Maruthi, Pavithra Dhayalan, Priyanka Kumaran, Jagatheesh Soundraoandiyan, Prakash Gambhi. SCN1A Gene Mutations in Indian Children With Epilepsy: Single Center Experience. Indian pediatrics. 2023-05-20. PMID:37209046. |
scn1a gene mutations in indian children with epilepsy: single center experience. |
2023-05-20 |
2023-08-14 |
Not clear |
| Douglas R Nordli, Douglas R Nordli, Fernando N Gala. Core Features Differentiate Dravet Syndrome from Febrile Seizures. The Journal of pediatrics. 2023-04-08. PMID:37030608. |
given the concern for a developmental and epileptic encephalopathy a next generation sequence epilepsy gene panel was ordered which identified a pathogenic variant in scn1a. |
2023-04-08 |
2023-08-14 |
Not clear |
| 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, Serena Pellegrin, Tommaso Lo Barco, Francesca Darra, Bernardo Dalla Bernardina, Renzo Guerrin. A registry for Dravet syndrome: the Italian experience. Epilepsia open. 2023-03-20. PMID:36938796. |
we describe the residras registry, dedicated to dravet syndrome (ds) and to other phenotypes related to scn1a mutations, as a paradigm of registry for rare and complex epilepsies. |
2023-03-20 |
2023-08-14 |
Not clear |
| Ingrid E Scheffe. The fascinating phenotypic spectrum of SCN1A gain-of-function epilepsies. Epilepsia. 2023-03-01. PMID:36855230. |
the fascinating phenotypic spectrum of scn1a gain-of-function epilepsies. |
2023-03-01 |
2023-08-14 |
Not clear |
| Lyndsey L Anderson, Declan Everett-Morgan, Stela P Petkova, Jill L Silverman, Jonathon C Arnol. Ictal vocalizations in the Scn1a Epilepsia open. 2023-02-22. PMID:36811143. |
ictal vocalizations in the scn1a ictal vocalizations have shown diagnostic utility in epilepsy patients. |
2023-02-22 |
2023-08-14 |
Not clear |
| Susanna Pagni, Helena Martins Custodio, Adam Frankish, Jonathan M Mudge, James D Mills, Sanjay M Sisodiy. SCN1A: bioinformatically-informed revised boundaries for promoter and enhancer regions. Human molecular genetics. 2023-01-30. PMID:36715146. |
pathogenic variations in the sodium voltage-gated channel alpha subunit 1 (scn1a) gene are responsible for multiple epilepsy phenotypes, including dravet syndrome (ds), febrile seizures (fs), and genetic epilepsy with febrile seizures plus (gefs+). |
2023-01-30 |
2023-08-14 |
human |
| Sara Matricardi, Sandrine Cestèle, Marina Trivisano, Benedetta Kassabian, Nathalie Leroudier, Roberta Vittorini, Margherita Nosadini, Elisabetta Cesaroni, Sabrina Siliquini, Cristina Marinaccio, Francesca Longaretti, Barbara Podestà, Francesca Felicia Operto, Concetta Luisi, Stefano Sartori, Clementina Boniver, Nicola Specchio, Federico Vigevano, Carla Marini, Massimo Mantegazz. Gain of function SCN1A disease-causing variants: expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication. Epilepsia. 2023-01-13. PMID:36636894. |
to refine the spectrum of scn1a-epileptic disorders other than dravet syndrome (ds) and genetic epilepsy with febrile seizures plus (gefs+) and optimize anti-seizure management by correlating phenotype-genotype relationship and functional consequences of scn1a variants in a cohort of patients. |
2023-01-13 |
2023-08-14 |
Not clear |
| Esraa Ghazala, Doaa A Shahin, Yahya Wahb. Polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (SCN1A -A3184G) gene among children with non-lesional epilepsy: a case-control study. Italian journal of pediatrics. vol 48. issue 1. 2022-09-02. PMID:36056404. |
polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (scn1a -a3184g) gene among children with non-lesional epilepsy: a case-control study. |
2022-09-02 |
2023-08-14 |
Not clear |
| Esraa Ghazala, Doaa A Shahin, Yahya Wahb. Polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (SCN1A -A3184G) gene among children with non-lesional epilepsy: a case-control study. Italian journal of pediatrics. vol 48. issue 1. 2022-09-02. PMID:36056404. |
mutations in the neuronal sodium voltage-gated channel, alpha subunit 1 (scn1a) gene have been associated with epilepsy. |
2022-09-02 |
2023-08-14 |
Not clear |
| Zhixu Fang, Lingling Xie, Xue Li, Jianxiong Gui, Xiaoyue Yang, Ziyao Han, Hanyu Luo, Dishu Huang, Hengsheng Chen, Li Cheng, Li Jian. Severe epilepsy phenotype with SCN1A missense variants located outside the sodium channel core region: Relationship between functional results and clinical phenotype. Seizure. vol 101. 2022-08-09. PMID:35944423. |
severe epilepsy phenotype with scn1a missense variants located outside the sodium channel core region: relationship between functional results and clinical phenotype. |
2022-08-09 |
2023-08-14 |
Not clear |
| Katarina Ceska, Pavlina Danhofer, Ondrej Horak, Klara Spanelova, Senad Kolar, Hana Oslejskova, Stefania Aulick. Phenotypic spectrum of the SCN1A mutation (from febrile seizures to Dravet syndrome). Bratislavske lekarske listy. vol 123. issue 7. 2022-07-30. PMID:35907053. |
however, sequence variants in the scn1a gene are associated with a very broad clinical spectrum, from asymptomatic carriers to the severe myoclonic epilepsy phenotype with severe disease (3).in the presented work, we retrospectively evaluated a group of 6 patients of the department of pediatric neurology of the medical faculty of masaryk university and the university hospital in brno with a proven missense mutation. |
2022-07-30 |
2023-08-14 |
Not clear |
| Anca-Lelia Riza, Ioana Streață, Eugenia Roza, Magdalena Budișteanu, Catrinel Iliescu, Carmen Burloiu, Mihaela-Amelia Dobrescu, Stefania Dorobanțu, Adina Dragoș, Andra Grigorescu, Tiberiu Tătaru, Mihai Ioana, Raluca Telean. Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies-Data from a Romanian Cohort. Genes. vol 13. issue 7. 2022-07-28. PMID:35886038. |
seven cases were diagnosed with dravet syndrome (likely pathogenic/pathogenic variants in scn1a) and two with genetic epilepsy with febrile seizures plus (scn1b). |
2022-07-28 |
2023-08-16 |
Not clear |
| Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela-Adela Vintan, Joseph Symonds, James Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaetan Lesca, Stewart MacLeod, Dragan Marjanovic, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Perez-Palma, M Scott Perry, Karen Pysden, Sophie J Russ-Hall, Ingrid E Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly Weiss, Elaine Wirrell, Sameer M Zuberi, Dennis Lal, Rikke S Møller, Massimo Mantegazza, Sandrine Cestèl. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain : a journal of neurology. 2022-06-13. PMID:35696452. |
the gain of function scn1a disorder spectrum: novel epilepsy phenotypes and therapeutic implications. |
2022-06-13 |
2023-08-14 |
Not clear |
| Patrick B Moloney, Patricia Dugan, Peter Widdess-Walsh, Orrin Devinsky, Norman Delant. Genomics in the presurgical epilepsy evaluation. Epilepsy research. vol 184. 2022-06-12. PMID:35691218. |
epilepsy surgery outcomes are less favourable in patients with pathogenic variants in ion channel genes such as scn1a. |
2022-06-12 |
2023-08-14 |
Not clear |