| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Cilla Zhou, Vaishali Satpute, Ka Lai Yip, Lyndsey L Anderson, Nicole Hawkins, Jennifer Kearney, Jonathon C Arnol. A high seizure burden increases several prostaglandin species in the hippocampus of a Scn1a Prostaglandins & other lipid mediators. 2024-04-10. PMID:38599513. |
a high seizure burden increases several prostaglandin species in the hippocampus of a scn1a dravet syndrome is an intractable epilepsy with a high seizure burden that is resistant to current anti-seizure medications. |
2024-04-10 |
2024-04-13 |
mouse |
| Amber Postma, Crista A Minderhoud, Wim M Otte, Floor E Jansen, W B Gunning, Judith S Verhoeven, Marian J Jongmans, Janneke R Zinkstok, Eva H Brilstr. Understanding neurodevelopmental trajectories and behavioral profiles in SCN1A-related epilepsy syndromes. Epilepsy & behavior : E&B. vol 154. 2024-03-21. PMID:38513571. |
a pathogenic variant in scn1a can result in a spectrum of phenotypes, including dravet syndrome (ds) and genetic epilepsy with febrile seizures plus (gefs + ) syndrome. |
2024-03-21 |
2024-03-24 |
Not clear |
| Zhigang Yang, Yuan Wang, Guohong Chen, Lifang Song, Yanli Ma, Weihua Zhan. [Analysis of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus due to variants of SCN1A gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 41. issue 3. 2024-03-06. PMID:38448015. |
[analysis of three chinese pedigrees affected with genetic epilepsy with febrile seizures plus due to variants of scn1a gene]. |
2024-03-06 |
2024-03-09 |
Not clear |
| Declan Gallagher, Eduardo Pérez-Palma, Tobias Bruenger, Ismael Ghanty, 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, Sameer M Zuberi, Dennis Lal, Andreas Brunklau. Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies. Epilepsia. 2024-02-27. PMID:38410936. |
scn1a variants are associated with epilepsy syndromes ranging from mild genetic epilepsy with febrile seizures plus (gefs+) to severe dravet syndrome (ds). |
2024-02-27 |
2024-03-02 |
Not clear |
| Kazuhiro Horiuchi, Akihiko Kudo, Shuntaro Nakamura, Kazuki Yamada, Takashi Inoue, Shintaro Fujii, Yuki Oshim. Switching from zonisamide to perampanel improved the frequency of seizures caused by hyperthermia in Dravet syndrome: a case report. Journal of medical case reports. vol 18. issue 1. 2024-01-03. PMID:38167335. |
dravet syndrome is a severe epilepsy disorder characterized by drug-resistant seizures and cognitive dysfunction, often caused by scn1a gene mutations. |
2024-01-03 |
2024-01-06 |
Not clear |
| Lakshminarayanapuram Gopal Viswanathan, Sandhya Alapati, Madhu Nagappa, Ravindranadh Mundlamuri, Raghavendra Kenchaiah, Ajay Asranna, Hansashree Padmanabha, Doniparthi V Seshagiri, Sanjib Sinh. Phenotypic features of epilepsy due to sodium channelopathies - A single center experience from India. Journal of neurosciences in rural practice. vol 14. issue 4. 2023-12-07. PMID:38059254. |
sodium channel subunit 1a (scn1a)-related epilepsy represents the archetypical channel-associated gene that has been linked to a wide spectrum of epilepsies of varying severity. |
2023-12-07 |
2023-12-10 |
Not clear |
| Chao Gong, Qing Li, Xuemei Li, Xiaoli Yu, Dong L. A Novel SCN1A Mutation Associated With Reflex Seizures Induced by Movements. Cureus. vol 15. issue 10. 2023-12-01. PMID:38021637. |
scn1a mutations have not been reported in patients with reflex epilepsy induced by movement. this report enriches the genotypes and phenotypes of scn1a-related epilepsy and provides further insight into the etiology of reflex epilepsy induced by movement. |
2023-12-01 |
2023-12-07 |
Not clear |
| Chao Gong, Qing Li, Xuemei Li, Xiaoli Yu, Dong L. A Novel SCN1A Mutation Associated With Reflex Seizures Induced by Movements. Cureus. vol 15. issue 10. 2023-12-01. PMID:38021637. |
scn1a mutations have not been reported in patients with reflex epilepsy induced by movement. this report enriches the genotypes and phenotypes of scn1a-related epilepsy and provides further insight into the etiology of reflex epilepsy induced by movement. |
2023-11-29 |
2023-12-07 |
Not clear |
| Regina Gamirova, Elena Shagimardanova, Takehiro Sato, Takayuki Kannon, Rimma Gamirova, Atsushi Tajim. Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing. Journal of human genetics. 2023-11-22. PMID:37993639. |
notably, we identified five cvs in known gge-associated genes (chd2, gabra1, rorb, scn1a, and scn1b) in five individuals and cvs shared by affected individuals in each of four family cases for other epilepsy candidate genes. |
2023-11-22 |
2023-11-29 |
Not clear |
| Kerem Teralı, Ayberk Türkyılmaz, Safiye Güneş Sağer, Alper Han Çeb. 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. Clinical and translational science. 2023-11-13. PMID:37955180. |
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. |
2023-11-13 |
2023-11-20 |
Not clear |
| Kerem Teralı, Ayberk Türkyılmaz, Safiye Güneş Sağer, Alper Han Çeb. 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. Clinical and translational science. 2023-11-13. PMID:37955180. |
dravet syndrome and genetic epilepsy with febrile seizures plus (gefs+) are both epilepsy syndromes that can be attributed to deleterious mutations occurring in scn1a, the gene encoding the pore-forming α-subunit of the na |
2023-11-13 |
2023-11-20 |
Not clear |
| Peter Sparber, Margarita Sharova, Ksenia Davydenko, Denis Pyankov, Alexandra Filatova, Mikhail Skoblo. Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing. Brain : a journal of neurology. 2023-11-13. PMID:37956038. |
the scn1a gene, a key epilepsy gene that is linked to various epilepsy phenotypes, is no exception. |
2023-11-13 |
2023-11-20 |
Not clear |
| Peter Sparber, Margarita Sharova, Ksenia Davydenko, Denis Pyankov, Alexandra Filatova, Mikhail Skoblo. Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing. Brain : a journal of neurology. 2023-11-13. PMID:37956038. |
functional analysis of 95 scn1a variants was carried out, including all 68 reported in the literature intronic variants, located outside of the splice sites canonical dinucleotides; 21 exonic variants of different classes (synonymous, missense, nonsense, and in-frame deletion), and six variants observed in patients with epilepsy. |
2023-11-13 |
2023-11-20 |
Not clear |
| Zhihong Zhou, Shuihua Wu, Xin Zou, Shuo G. Association between SCN1A polymorphism and risk of epilepsy in children: A systematic review and meta-analysis. Seizure. vol 112. 2023-09-23. PMID:37741152. |
association between scn1a polymorphism and risk of epilepsy in children: a systematic review and meta-analysis. |
2023-09-23 |
2023-10-07 |
human |
| Zhihong Zhou, Shuihua Wu, Xin Zou, Shuo G. Association between SCN1A polymorphism and risk of epilepsy in children: A systematic review and meta-analysis. Seizure. vol 112. 2023-09-23. PMID:37741152. |
numerous studies have demonstrated the association between scn1a polymorphisms and risk of epilepsy in adults, but their role in epilepsy in children has just gained traction and results have remained inconsistent. |
2023-09-23 |
2023-10-07 |
human |
| Zhihong Zhou, Shuihua Wu, Xin Zou, Shuo G. Association between SCN1A polymorphism and risk of epilepsy in children: A systematic review and meta-analysis. Seizure. vol 112. 2023-09-23. PMID:37741152. |
in this work, we performed a systematic review and meta-analysis to assess the association between scn1a polymorphisms and risk for epilepsy in children. |
2023-09-23 |
2023-10-07 |
human |
| Zhihong Zhou, Shuihua Wu, Xin Zou, Shuo G. Association between SCN1A polymorphism and risk of epilepsy in children: A systematic review and meta-analysis. Seizure. vol 112. 2023-09-23. PMID:37741152. |
in conclusion, scn1a rs2298771 polymorphism was not significantly associated with the risk of epilepsy in children. |
2023-09-23 |
2023-10-07 |
human |
| Elliott S Neal, Weizhi Xu, Karin Borge. Metabolic aspects of genetic ion channel epilepsies. Journal of neurochemistry. 2023-08-18. PMID:37594756. |
here, we provide an overview of studies investigating metabolic alterations in epilepsies caused by mutations in the scn1a and kcna1 genes, which are currently the most studied ion channel epilepsies in animal models. |
2023-08-18 |
2023-09-07 |
human |
| Ignatius Rudd, Gulvir Gill, Michael Buckley, Lilian Downi. An incidental finding in prenatal exome sequencing-A case study and review of the clinical and ethical considerations. American journal of medical genetics. Part A. 2023-08-14. PMID:37578328. |
pathogenic variants in the scn1a gene are strongly associated with severe myoclonic epilepsy of infancy, or dravet syndrome. |
2023-08-14 |
2023-08-16 |
Not clear |
| 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. |
scn1a polymorphisms and haplotypes are associated with valproic acid treatment outcomes in chinese children with epilepsy. |
2023-07-14 |
2023-08-14 |
Not clear |