| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Antara Das, Martin A Smith, Diane K O'Dow. A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy. Journal of visualized experiments : JoVE. issue 173. 2021-10-15. PMID:34309607. |
scn1a mutations can result in a large variety of seizure phenotype ranging from simple, self-limited fever-associated febrile seizures (fs), moderate-level genetic epilepsy with febrile seizures plus (gefs+) to more severe dravet syndrome (ds). |
2021-10-15 |
2023-08-13 |
mouse |
| Masahiro Kanatani, Tadashi Adachi, Ryoichi Sakata, Yoko Nishimura, Yoshiaki Saito, Yoshihiro Maegaki, Yasuhiro Watanabe, Ritsuko Hanajim. Dravet syndrome with parkinsonian symptoms and intact dopaminergic neurons: A case report. Brain & development. vol 43. issue 3. 2021-10-04. PMID:33199159. |
dravet syndrome (ds) is severe myoclonic epilepsy in infancy and associated with a heterozygous mutation of the gene for the sodium channel alpha 1 subunit (scn1a). |
2021-10-04 |
2023-08-13 |
Not clear |
| Kate Stanley, Joseph Hostyk, Linh Tran, Marta Amengual-Gual, Patricia Dugan, Justice Clark, Hyunmi Choi, Dmitry Tchapyjnikov, Piero Perucca, Cecilia Fernandes, Danielle Andrade, Orrin Devinsky, Gianpiero L Cavalleri, Chantal Depondt, Arjune Sen, Terence O'Brien, Erin Heinzen, Tobias Loddenkemper, David B Goldstein, Mohamed A Mikati, Norman Delant. Genomic analysis of "microphenotypes" in epilepsy. American journal of medical genetics. Part A. 2021-09-27. PMID:34569149. |
although no single gene reached exome-wide statistical significance to be associated with any of the diagnostic categories, we observe enrichment of rare damaging variants in established epilepsy genes among landau-kleffner patients (grin2a) and pediatric status epilepticus patients (mecp2, scn1a, scn2a, scn8a). |
2021-09-27 |
2023-08-13 |
Not clear |
| Bin Tang, Bin Li, Liang-Di Gao, Na He, Xiao-Rong Liu, Yue-Sheng Long, Yang Zeng, Yong-Hong Yi, Tao Su, Wei-Ping Lia. Optimization of in silico tools for predicting genetic variants: individualizing for genes with molecular sub-regional stratification. Briefings in bioinformatics. vol 21. issue 5. 2021-09-23. PMID:31686106. |
scn1a missense variants related to epilepsy were retrieved from mutation databases, and benign missense variants were collected from exac database. |
2021-09-23 |
2023-08-13 |
Not clear |
| Bin Tang, Bin Li, Liang-Di Gao, Na He, Xiao-Rong Liu, Yue-Sheng Long, Yang Zeng, Yong-Hong Yi, Tao Su, Wei-Ping Lia. Optimization of in silico tools for predicting genetic variants: individualizing for genes with molecular sub-regional stratification. Briefings in bioinformatics. vol 21. issue 5. 2021-09-23. PMID:31686106. |
additional validation was performed in scn1a variants of damage-confirmed/familial epilepsy. |
2021-09-23 |
2023-08-13 |
Not clear |
| Xuan Zhang, Jia Liu, Jing Y. Association between SCN1A polymorphism and carbamazepine responsiveness in epilepsy: A meta-analysis. Epilepsy research. vol 176. 2021-09-20. PMID:34218210. |
association between scn1a polymorphism and carbamazepine responsiveness in epilepsy: a meta-analysis. |
2021-09-20 |
2023-08-13 |
Not clear |
| Xijing Zhou, Haiqing Xu, Xiuqu Cai, Bin Tang, Xiaorong Liu, Yiwu Shi, Jinou Zheng, Weiping Liao, Lu Y. Differences in SCN1A intronic variants result in diverse aberrant splicing patterns and are related to the phenotypes of epilepsy with febrile seizures. Epilepsy research. vol 176. 2021-09-20. PMID:34293681. |
differences in scn1a intronic variants result in diverse aberrant splicing patterns and are related to the phenotypes of epilepsy with febrile seizures. |
2021-09-20 |
2023-08-13 |
Not clear |
| Xijing Zhou, Haiqing Xu, Xiuqu Cai, Bin Tang, Xiaorong Liu, Yiwu Shi, Jinou Zheng, Weiping Liao, Lu Y. Differences in SCN1A intronic variants result in diverse aberrant splicing patterns and are related to the phenotypes of epilepsy with febrile seizures. Epilepsy research. vol 176. 2021-09-20. PMID:34293681. |
intronic variants of the scn1a gene are detected in patients with epilepsy with febrile seizures (efs), which includes a series of phenotypes with different severities. |
2021-09-20 |
2023-08-13 |
Not clear |
| Ming-Liang Zhang, Xiao-Long Chen, Zhao-Fang Bai, Xu Zhao, Wei-Xia Li, Xiao-Yan Wang, Hui Zhang, Xiao-Fei Chen, Shu-Qi Zhang, Jin-Fa Tang, Xiao-He Xiao, Yan-Ling Zha. ABCB1 c.3435C > T and EPHX1 c.416A > G polymorphisms influence plasma carbamazepine concentration, metabolism, and pharmacoresistance in epileptic patients. Gene. vol 805. 2021-09-15. PMID:34411648. |
the gene polymorphisms of abcb1, ephx1, and scn1a were found to influence carbamazepine (cbz) metabolism and resistance in epilepsy patients, but the relevance remains controversial. |
2021-09-15 |
2023-08-13 |
Not clear |
| Aliesha Griffin, Colleen Carpenter, Jing Liu, Rosalia Paterno, Brian Grone, Kyla Hamling, Maia Moog, Matthew T Dinday, Francisco Figueroa, Mana Anvar, Chinwendu Ononuju, Tony Qu, Scott C Baraba. Phenotypic analysis of catastrophic childhood epilepsy genes. Communications biology. vol 4. issue 1. 2021-08-16. PMID:34083748. |
phenotypes with unprovoked electrographic seizure activity (i.e., epilepsy) were identified in zebrafish lines for 8 genes; arx, eef1a, gabrb3, grin1, pnpo, scn1a, strada and stxbp1. |
2021-08-16 |
2023-08-13 |
human |
| Shaoxia Sun, Xiaoling Li, Jiguo Song, Yufen Li, Liyun Xu, Bing Xia, Ying Hua, Liping Zhu, Junlin Wan. [Analysis of clinical phenotype and SCN1A gene variant in a pedigree affected with genetic epilepsy with febrile seizures]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 38. issue 8. 2021-08-10. PMID:34365615. |
[analysis of clinical phenotype and scn1a gene variant in a pedigree affected with genetic epilepsy with febrile seizures]. |
2021-08-10 |
2023-08-13 |
Not clear |
| Le Thi Khanh Van, Huynh Thi Dieu Hien, Huynh Thi Thuy Kieu, Nguyen Le Trung Hieu, Le Sy Vinh, Giang Hoa, Do Thi Thu Han. De novo homozygous variant of the SCN1A gene in a patient with severe Dravet syndrome complicated by acute encephalopathy. Neurogenetics. vol 22. issue 2. 2021-07-28. PMID:33674996. |
variants in the scn1a gene have been identified in epilepsy patients with widely variable phenotypes and they are generally heterozygous. |
2021-07-28 |
2023-08-13 |
Not clear |
| Buse Rahime Hasırcı Bayır, Kemal Tutkavul, Metin Eser, Betül Bayka. Epilepsy in patients with familial hemiplegic migraine. Seizure. vol 88. 2021-07-28. PMID:33839563. |
we investigated the associations of epilepsy in patients with fhm with cacna1a, atp1a2, scn1a or prrt2 mutations along with clinical and genetic data. |
2021-07-28 |
2023-08-13 |
Not clear |
| Hongxia Ma, Yuxiong Guo, Zhihong Chen, Lingan Wang, Zhihong Tang, Jingwen Zhang, Qinfei Miao, Qiongxiang Zha. Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+). Seizure. vol 88. 2021-07-28. PMID:33895391. |
mutations in the sodium channel genes scn1a, scn3a, and scn9a in children with epilepsy with febrile seizures plus(efs+). |
2021-07-28 |
2023-08-13 |
Not clear |
| Andreas Brunklaus, Stephanie Schorge, Alexander D Smith, Ismael Ghanty, Kirsty Stewart, Sarah Gardiner, Juanjiangmeng Du, Eduardo Pérez-Palma, Joseph D Symonds, Abby C Collier, Dennis Lal, Sameer M Zuber. SCN1A variants from bench to bedside-improved clinical prediction from functional characterization. Human mutation. vol 41. issue 2. 2021-07-22. PMID:31782251. |
variants in the scn1a gene are associated with a wide range of disorders including genetic epilepsy with febrile seizures plus (gefs+), familial hemiplegic migraine (fhm), and the severe childhood epilepsy dravet syndrome (ds). |
2021-07-22 |
2023-08-13 |
Not clear |
| Domitille Laur, Blandine Dozières-Puyravel, Adina Iléa, Caroline Nava, Catherine Delanoë, Hala Nasser, Eric Le Guern, Stéphane Auvi. Focal epilepsy due to de novo SCN1A mutation. Epileptic disorders : international epilepsy journal with videotape. vol 23. issue 3. 2021-07-06. PMID:34106054. |
focal epilepsy due to de novo scn1a mutation. |
2021-07-06 |
2023-08-13 |
Not clear |
| Huifang Zhao, Lang He, Shuai Li, Hualin Huang, Feng Tang, Xiaobo Han, Zuoxian Lin, Chao Tian, Rongqi Huang, Peng Zhou, Jufang Huang, Sihao Deng, Zhiyuan L. Generation of corrected-hiPSC (USTCi001-A-1) from epilepsy patient iPSCs using TALEN-mediated editing of the SCN1A gene. Stem cell research. vol 46. 2021-06-21. PMID:32544858. |
generation of corrected-hipsc (ustci001-a-1) from epilepsy patient ipscs using talen-mediated editing of the scn1a gene. |
2021-06-21 |
2023-08-13 |
Not clear |
| Zhuangfei Wen, Jiang Chen, Bin Zhu, Yan Lu, Lijiao Che. Effects of SCN1A and SCN2A polymorphisms on responsiveness to valproic acid monotherapy in epileptic children: A protocol for systematic review and meta-analysis. Medicine. vol 100. issue 20. 2021-05-27. PMID:34011048. |
in this study, a meta-analysis was used to further explore the effects of scn1a and scn2a gene polymorphism on vpa response in children with epilepsy. |
2021-05-27 |
2023-08-13 |
Not clear |
| Gui-Xin Zhao, Zheng Zhang, Wen-Ke Cai, Ming-Li Shen, Ping Wang, Gong-Hao H. Associations between CYP3A4, CYP3A5 and SCN1A polymorphisms and carbamazepine metabolism in epilepsy: A meta-analysis. Epilepsy research. vol 173. 2021-05-17. PMID:33756436. |
associations between cyp3a4, cyp3a5 and scn1a polymorphisms and carbamazepine metabolism in epilepsy: a meta-analysis. |
2021-05-17 |
2023-08-13 |
Not clear |
| Gui-Xin Zhao, Zheng Zhang, Wen-Ke Cai, Ming-Li Shen, Ping Wang, Gong-Hao H. Associations between CYP3A4, CYP3A5 and SCN1A polymorphisms and carbamazepine metabolism in epilepsy: A meta-analysis. Epilepsy research. vol 173. 2021-05-17. PMID:33756436. |
cyp3a4 (rs2242480), cyp3a5 (rs776746) and scn1a (rs3812718 and rs2298771) gene polymorphisms were previously indicated to be associated with carbamazepine (cbz) metabolism and resistance in epilepsy. |
2021-05-17 |
2023-08-13 |
Not clear |