| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Renáta Papp-Hertelendi, Tamás Tényi, Kinga Hadzsiev, Lídia Hau, Zsuzsanna Benyus, Györgyi Csáb. First report on the association of SCN1A mutation, childhood schizophrenia and autism spectrum disorder without epilepsy. Psychiatry research. vol 270. 2019-11-20. PMID:30060894. |
first report on the association of scn1a mutation, childhood schizophrenia and autism spectrum disorder without epilepsy. |
2019-11-20 |
2023-08-13 |
Not clear |
| Ananyaa Kumar, Csaba Juhász, Aimee Luat, Tuhina Govil-Dalela, Michael E Behen, Melissa A Hicks, Harry T Chugan. Evolution of Brain Glucose Metabolic Abnormalities in Children With Epilepsy and SCN1A Gene Variants. Journal of child neurology. vol 33. issue 13. 2019-10-04. PMID:30182801. |
evolution of brain glucose metabolic abnormalities in children with epilepsy and scn1a gene variants. |
2019-10-04 |
2023-08-13 |
Not clear |
| Lihong Shi, Miaomiao Zhu, Huilan Li, Zhipeng Wen, Xiaoping Chen, Jia Luo, Cong Lin, Zanling Zhan. SCN1A and SCN2A polymorphisms are associated with response to valproic acid in Chinese epilepsy patients. European journal of clinical pharmacology. vol 75. issue 5. 2019-09-11. PMID:30693367. |
scn1a and scn2a polymorphisms are associated with response to valproic acid in chinese epilepsy patients. |
2019-09-11 |
2023-08-13 |
Not clear |
| Lihong Shi, Miaomiao Zhu, Huilan Li, Zhipeng Wen, Xiaoping Chen, Jia Luo, Cong Lin, Zanling Zhan. SCN1A and SCN2A polymorphisms are associated with response to valproic acid in Chinese epilepsy patients. European journal of clinical pharmacology. vol 75. issue 5. 2019-09-11. PMID:30693367. |
the aim of the study was to explore the effect of scn1a and scn2a gene polymorphisms on vpa response in the treatment of epilepsy among chinese patients. |
2019-09-11 |
2023-08-13 |
Not clear |
| Jianmin Huang, Zhe Qian, Haiyan Chen, Qing Huang, Ling Huang, Guojun Liu, Xionglin Tan. [Association of single nucleotide polymorphisms of SCN1A gene with therapeutic effect of carbamazepine among ethnic Zhuang Chinese patients with epilepsy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 36. issue 3. 2019-08-28. PMID:30835363. |
[association of single nucleotide polymorphisms of scn1a gene with therapeutic effect of carbamazepine among ethnic zhuang chinese patients with epilepsy]. |
2019-08-28 |
2023-08-13 |
Not clear |
| Jianmin Huang, Zhe Qian, Haiyan Chen, Qing Huang, Ling Huang, Guojun Liu, Xionglin Tan. [Association of single nucleotide polymorphisms of SCN1A gene with therapeutic effect of carbamazepine among ethnic Zhuang Chinese patients with epilepsy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 36. issue 3. 2019-08-28. PMID:30835363. |
to assess the association of single nucleotide polymorphisms of scn1a gene with therapeutic effect of carbamazepine among ethnic zhuang chinese patients with epilepsy. |
2019-08-28 |
2023-08-13 |
Not clear |
| Francesca Bisulli, Laura Licchetta, Sara Baldassari, Lorenzo Muccioli, Caterina Marconi, Gaetano Cantalupo, Candace Myers, Veronica Menghi, Raffaella Minardi, Leonardo Caporali, Carla Marini, Renzo Guerrini, Heather C Mefford, Paolo Tinuper, Tommaso Pippucc. SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus. Epileptic disorders : international epilepsy journal with videotape. vol 21. issue 2. 2019-08-23. PMID:30977726. |
scn1a mutations in focal epilepsy with auditory features: widening the spectrum of gefs plus. |
2019-08-23 |
2023-08-13 |
Not clear |
| Zhi Jian Wang, Jie Chen, Hai Liang Chen, Lin Yan Zhang, Duo Xu, Wen Ting Jian. Association between SCN1A polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case-control study and meta-analysis. Bioscience reports. vol 38. issue 6. 2019-07-22. PMID:30413604. |
association between scn1a polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case-control study and meta-analysis. |
2019-07-22 |
2023-08-13 |
Not clear |
| YuJaung Kim, Eduardo Bravo, Caitlin K Thirnbeck, Lori A Smith-Mellecker, Se Hee Kim, Brian K Gehlbach, Linda C Laux, Xiuqiong Zhou, Douglas R Nordli, George B Richerso. Severe peri-ictal respiratory dysfunction is common in Dravet syndrome. The Journal of clinical investigation. vol 128. issue 3. 2019-07-15. PMID:29329111. |
dravet syndrome (ds) is a severe childhood-onset epilepsy commonly due to mutations of the sodium channel gene scn1a. |
2019-07-15 |
2023-08-13 |
mouse |
| Katie Angione, Krista Eschbach, Garnett Smith, Charuta Joshi, Scott Demares. Genetic testing in a cohort of patients with potential epilepsy with myoclonic-atonic seizures. Epilepsy research. vol 150. 2019-06-18. PMID:30660939. |
fifty-one patients had an epilepsy panel, two of which were positive (likely pathogenic variant in scn1a, pathogenic variant in gabrg2). |
2019-06-18 |
2023-08-13 |
Not clear |
| Haiyang Zhi, Changan Wu, Ziqing Yan. SCN1A rs3812718 polymorphism is associated with epilepsy: An updated meta-analysis. Epilepsy research. vol 142. 2019-02-19. PMID:29605548. |
scn1a rs3812718 polymorphism is associated with epilepsy: an updated meta-analysis. |
2019-02-19 |
2023-08-13 |
Not clear |
| Haiyang Zhi, Changan Wu, Ziqing Yan. SCN1A rs3812718 polymorphism is associated with epilepsy: An updated meta-analysis. Epilepsy research. vol 142. 2019-02-19. PMID:29605548. |
a significant association between scn1a rs3812718 polymorphism and the risk of epilepsy was detected in the homozygote comparison (or = 1.64, 95% ci, 1.25-2.15, p = .001, p(bon) = 0.004), and dominant model (or = 1.36, 95% ci, 1.08-1.72, p < .001, p(bon) < 0.001), but not in heterozygote comparison (or = 1.22, 95% ci, 0.98-1.53, p = .003, p(bon) = 0.001), and recessive model (or = 1.35, 95% ci, 1.22-1.49, p = .104, p(bon) = 0.104). |
2019-02-19 |
2023-08-13 |
Not clear |
| Haiyang Zhi, Changan Wu, Ziqing Yan. SCN1A rs3812718 polymorphism is associated with epilepsy: An updated meta-analysis. Epilepsy research. vol 142. 2019-02-19. PMID:29605548. |
in conclusion, our results suggest that scn1a rs3812718 polymorphism is associated with the risk of epilepsy. |
2019-02-19 |
2023-08-13 |
Not clear |
| P Prontera, P Sarchielli, S Caproni, C Bedetti, L M Cupini, P Calabresi, C Cost. Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications. Cephalalgia : an international journal of headache. vol 38. issue 2. 2019-01-15. PMID:28058944. |
the penetrance of epilepsy within the families was highest for patients carrying mutation in the cacna1a gene (60%), and lower in those having scn1a (33.3%) and atp1a2 (30.9%) mutations. |
2019-01-15 |
2023-08-13 |
human |
| Semra Hız-Kurul, Semra Gürsoy, Müge Ayanoğlu, Uluç Yiş, Derya Erça. Expanding spectrum of SCN1A-related phenotype with novel mutations. The Turkish journal of pediatrics. vol 59. issue 5. 2019-01-11. PMID:29745119. |
mutations in the genes encoding voltage-gated sodium channels cause a variety of epilepsy syndromes, with most of the mutations occurring in scn1a gene. |
2019-01-11 |
2023-08-13 |
Not clear |
| Semra Hız-Kurul, Semra Gürsoy, Müge Ayanoğlu, Uluç Yiş, Derya Erça. Expanding spectrum of SCN1A-related phenotype with novel mutations. The Turkish journal of pediatrics. vol 59. issue 5. 2019-01-11. PMID:29745119. |
the scn1a gene, which seems to be a relevant regulator of excitability of the cns, is implicated in various epilepsy phenotypes through various genetic mechanisms ranging from common variants to rare monogenic variants. |
2019-01-11 |
2023-08-13 |
Not clear |
| Semra Hız-Kurul, Semra Gürsoy, Müge Ayanoğlu, Uluç Yiş, Derya Erça. Expanding spectrum of SCN1A-related phenotype with novel mutations. The Turkish journal of pediatrics. vol 59. issue 5. 2019-01-11. PMID:29745119. |
it is known that scn1a gene is tightly linked to severe myoclonic epilepsy of infancy (smei). |
2019-01-11 |
2023-08-13 |
Not clear |
| Yuka Hattori, Hisashi Kawawaki, Asako Horino, Hitomi Thuji, Megumi Nukui, Ichiro Kuki, Shin Okazaki, Kiyotaka Tomiw. [A case of West syndrome with a deletion at chromosome 2q24.3-q31.3]. No to hattatsu = Brain and development. vol 49. issue 2. 2019-01-02. PMID:30113154. |
the frequency of epilepsy varies with deletion ranges in the 2q24-q31 region, suggesting that deletions in the scn1a gene deletion, as well as in the 2q31.1 region, are involved in the development of west syndrome. |
2019-01-02 |
2023-08-13 |
Not clear |
| Catherine A Brownstein, Richard D Goldstein, Christopher H Thompson, Robin L Haynes, Emma Giles, Beth Sheidley, Matthew Bainbridge, Elisabeth A Haas, Othon J Mena, Jonathan Lucas, Bethann Schaber, Ingrid A Holm, Alfred L George, Hannah C Kinney, Annapurna H Podur. SCN1A variants associated with sudden infant death syndrome. Epilepsia. vol 59. issue 4. 2018-12-11. PMID:29601086. |
one harbored scn1a g682v, and the other had 2 scn1a variants in cis: l1296m and e1308d, a variant previously associated with epilepsy. |
2018-12-11 |
2023-08-13 |
Not clear |
| Catherine A Brownstein, Richard D Goldstein, Christopher H Thompson, Robin L Haynes, Emma Giles, Beth Sheidley, Matthew Bainbridge, Elisabeth A Haas, Othon J Mena, Jonathan Lucas, Bethann Schaber, Ingrid A Holm, Alfred L George, Hannah C Kinney, Annapurna H Podur. SCN1A variants associated with sudden infant death syndrome. Epilepsia. vol 59. issue 4. 2018-12-11. PMID:29601086. |
our cases represent a novel association between scn1a and sids, extending the scn1a spectrum from epilepsy to sids. |
2018-12-11 |
2023-08-13 |
Not clear |