| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Ágnes Till, Judith Zima, Anett Fekete, Judit Bene, Márta Czakó, András Szabó, Béla Melegh, Kinga Hadzsie. Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy. Seizure. vol 74. 2020-11-16. PMID:31765958. |
the vast majority of mutations responsible for epilepsy syndromes such as genetic epilepsy with febrile seizures plus (gefs+) and dravet syndrome (ds) occur in the gene encoding the type 1 alpha subunit of neuronal voltage-gated sodium channel (scn1a). |
2020-11-16 |
2023-08-13 |
Not clear |
| Paul G Hatini, Kathryn G Common. Serotonin abnormalities in Dravet syndrome mice before and after the age of seizure onset. Brain research. vol 1724. 2020-10-29. PMID:31445030. |
dravet syndrome (ds) is a genetic form of severe epilepsy often associated with mutation of the scn1a gene encoding the voltage gated sodium channel nav1.1. |
2020-10-29 |
2023-08-13 |
mouse |
| Arsalan Anwar, Sidra Saleem, Urvish K Patel, Kogulavadanan Arumaithurai, Preeti Mali. Dravet Syndrome: An Overview. Cureus. vol 11. issue 6. 2020-10-01. PMID:31497436. |
the most common etiology identified in patients with ds is a de-novo genetic mutation alpha-1 subunit of voltage-gated calcium channel gene (scn1a). |
2020-10-01 |
2023-08-13 |
Not clear |
| Min Jung Cho, Soon Sung Kwon, Ara Ko, Seung Tae Lee, Young Mock Lee, Heung Dong Kim, Hee Jung Chung, Se Hee Kim, Joon Soo Lee, Dae Sung Kim, Hoon Chul Kan. Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations. Journal of clinical neurology (Seoul, Korea). vol 14. issue 1. 2020-09-29. PMID:29141279. |
the aim of this study was to determine the effectiveness of stiripentol (stp) add-on therapy to valproate and clobazam in patients with dravet syndrome (ds) according to the presence of mutations in the sodium channel alpha-1 subunit gene (scn1a). |
2020-09-29 |
2023-08-13 |
Not clear |
| Jens Schuster, Loora Laan, Joakim Klar, Zhe Jin, Mikael Huss, Sergiy Korol, Feria Hikmet Noraddin, Maria Sobol, Bryndis Birnir, Niklas Dah. Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment. Neurobiology of disease. vol 132. 2020-08-06. PMID:31445158. |
dravet syndrome (ds) is an early onset refractory epilepsy typically caused by de novo heterozygous variants in scn1a encoding the α-subunit of the neuronal sodium channel na |
2020-08-06 |
2023-08-13 |
Not clear |
| Jens Schuster, Ambrin Fatima, Maria Sobol, Feria Hikmet Norradin, Loora Laan, Niklas Dah. Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations. Stem cell research. vol 39. 2020-04-27. PMID:31400703. |
dravet syndrome (ds) is a childhood epilepsy syndrome caused by heterozygous mutations in the scn1a gene encoding voltage-gated sodium channel na |
2020-04-27 |
2023-08-13 |
human |
| 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 |
| Hyun Woo Kim, Zhejiu Quan, Young-Beom Kim, Eunji Cheong, Heung Dong Kim, Minjung Cho, Jiho Jang, Young Rang Yoo, Joon Soo Lee, Ji Hun Kim, Yang In Kim, Dae-Sung Kim, Hoon-Chul Kan. Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients. Brain & development. vol 40. issue 4. 2018-08-20. PMID:29295803. |
we investigated how two distinct mutations in scn1a differentially affect electrophysiological properties of the patient-derived gabaergic neurons and clinical severities in two dravet syndrome (ds) patients. |
2018-08-20 |
2023-08-13 |
Not clear |
| Michael F Hammer, Atsushi Ishii, Laurel Johnstone, Alexander Tchourbanov, Branden Lau, Ryan Sprissler, Brian Hallmark, Miao Zhang, Jin Zhou, Joseph Watkins, Shinichi Hiros. Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome. PloS one. vol 12. issue 7. 2017-10-06. PMID:28686619. |
dravet syndrome (ds) is a rare, devastating form of childhood epilepsy that is often associated with mutations in the voltage-gated sodium channel gene, scn1a. |
2017-10-06 |
2023-08-13 |
Not clear |
| R E Jiménez-Arredondo, A J L Brambila-Tapia, F M Mercado-Silva, M T Magaña-Torres, L E Figuer. Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome. Genetics and molecular research : GMR. vol 16. issue 2. 2017-09-28. PMID:28525652. |
therefore, the objective of this study was to determine the frequency of scn1a mutations (in the exon 26) in a cohort of mexican patients with ds and refractory epilepsy (re). |
2017-09-28 |
2023-08-13 |
Not clear |
| Hiroshi Maeda, Tomohiro Chiyonobu, Michiko Yoshida, Satoshi Yamashita, Masashi Zuiki, Satoshi Kidowaki, Kenichi Isoda, Kazuhiro Yamakawa, Masafumi Morimoto, Tatsutoshi Nakahata, Megumu K Saito, Hajime Hoso. Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome. Journal of human genetics. vol 61. issue 6. 2017-04-06. PMID:26841829. |
dravet syndrome (ds) is a severe childhood epilepsy typically caused by de novo dominant mutations in scn1a. |
2017-04-06 |
2023-08-13 |
Not clear |
| Hiroshi Maeda, Tomohiro Chiyonobu, Michiko Yoshida, Satoshi Yamashita, Masashi Zuiki, Satoshi Kidowaki, Kenichi Isoda, Kazuhiro Yamakawa, Masafumi Morimoto, Tatsutoshi Nakahata, Megumu K Saito, Hajime Hoso. Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome. Journal of human genetics. vol 61. issue 6. 2017-04-06. PMID:26841829. |
our findings suggest that scn1a mutation leads to changes in the dopamine system that may contribute to the behavioral abnormalities in ds. |
2017-04-06 |
2023-08-13 |
Not clear |
| Maneesh G Kumar, Shane Rowley, Ruth Fulton, Matthew T Dinday, Scott C Baraban, Manisha Pate. Altered Glycolysis and Mitochondrial Respiration in a Zebrafish Model of Dravet Syndrome. eNeuro. vol 3. issue 2. 2016-12-13. PMID:27066534. |
altered metabolism is an important feature of many epileptic syndromes but has not been reported in dravet syndrome (ds), a catastrophic childhood epilepsy associated with mutations in a voltage-activated sodium channel, nav1.1 (scn1a). |
2016-12-13 |
2023-08-13 |
zebrafish |
| Milan Surovy, Andrea Soltysova, Miriam Kolnikova, Pavol Sykora, Denisa Ilencikova, Andrej Ficek, Jan Radvanszky, Ludevit Kadas. Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection. General physiology and biophysics. vol 35. issue 3. 2016-09-13. PMID:27045673. |
causative variants in scn1a gene which codes the main, pore-forming subunit of the channel expressed in central nervous system are associated predominantly with dravet syndrome (ds), as well as with generalized epilepsy with febrile seizures plus (gefs+) making it one of the most significant epilepsy gene. |
2016-09-13 |
2023-08-13 |
Not clear |
| Yifan Zhang, Angéla Kecskés, Daniëlle Copmans, Mélanie Langlois, Alexander D Crawford, Berten Ceulemans, Lieven Lagae, Peter A M de Witte, Camila V Esguerr. Pharmacological characterization of an antisense knockdown zebrafish model of Dravet syndrome: inhibition of epileptic seizures by the serotonin agonist fenfluramine. PloS one. vol 10. issue 5. 2016-02-04. PMID:25965391. |
we developed a zebrafish model of ds using morpholino antisense oligomers (mos) targeting scn1lab, the zebrafish ortholog of scn1a. |
2016-02-04 |
2023-08-13 |
mouse |
| Stacey B Dutton, Christopher D Makinson, Ligia A Papale, Anupama Shankar, Bindu Balakrishnan, Kazu Nakazawa, Andrew Escay. Preferential inactivation of Scn1a in parvalbumin interneurons increases seizure susceptibility. Neurobiology of disease. vol 49. 2015-11-10. PMID:22926190. |
dominant mutations in scn1a, which encodes the nav1.1 vgsc α-subunit, underlie several forms of epilepsy, including dravet syndrome (ds) and genetic epilepsy with febrile seizures plus (gefs+). |
2015-11-10 |
2023-08-12 |
mouse |
| Stacey B Dutton, Christopher D Makinson, Ligia A Papale, Anupama Shankar, Bindu Balakrishnan, Kazu Nakazawa, Andrew Escay. Preferential inactivation of Scn1a in parvalbumin interneurons increases seizure susceptibility. Neurobiology of disease. vol 49. 2015-11-10. PMID:22926190. |
electrophysiological analyses of ds and gefs+ mouse models have led to the hypothesis that scn1a mutations reduce the excitability of inhibitory cortical and hippocampal interneurons. |
2015-11-10 |
2023-08-12 |
mouse |
| Matthew T Dinday, Scott C Baraba. Large-Scale Phenotype-Based Antiepileptic Drug Screening in a Zebrafish Model of Dravet Syndrome eNeuro. vol 2. issue 4. 2015-10-14. PMID:26465006. |
large-scale phenotype-based antiepileptic drug screening in a zebrafish model of dravet syndrome mutations in a voltage-gated sodium channel (scn1a) result in dravet syndrome (ds), a catastrophic childhood epilepsy. |
2015-10-14 |
2023-08-13 |
zebrafish |
| Christopher D Makinson, Brian S Tanaka, Tyra Lamar, Alan L Goldin, Andrew Escay. Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance. Neurobiology of disease. vol 68. 2015-05-11. PMID:24704313. |
scn1a mutations are the main cause of the epilepsy disorders dravet syndrome (ds) and genetic epilepsy with febrile seizures plus (gefs+). |
2015-05-11 |
2023-08-13 |
mouse |
| Christine S Cheah, Ruth E Westenbroek, William H Roden, Franck Kalume, John C Oakley, Laura A Jansen, William A Catteral. Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome. Channels (Austin, Tex.). vol 7. issue 6. 2014-12-03. PMID:23965409. |
dravet syndrome (ds) is an intractable genetic epilepsy caused by loss-of-function mutations in scn1a, the gene encoding brain sodium channel nav 1.1. |
2014-12-03 |
2023-08-12 |
mouse |