| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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 |
| John Cha, Gregory Filatov, Steven J Smith, Arnold R Gammaitoni, Amélie Lothe, Thadd Reede. Fenfluramine increases survival and reduces markers of neurodegeneration in a mouse model of Dravet syndrome. Epilepsia open. 2023-11-29. PMID:38018342. |
in zebrafish mutant scn1 ds models, chronic fenfluramine treatment preserved neuronal cytoarchitecture prior to seizure onset and prevented gliosis; here, we extend these findings to a mammalian model of ds (scn1a |
2023-11-29 |
2023-12-07 |
mouse |
| 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 |
| 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. |
here, we demonstrate reduced expression of the rodent glutamate transporter type 1 (glt-1) in a ds mouse model, and in wild type mouse strains where scn1a haploinsufficiency is most likely to cause epilepsy, indicating that glt-1 depression may play a role in ds seizures. |
2023-07-14 |
2023-08-14 |
mouse |
| Kevin M Goff, Sophie R Liebergall, Evan Jiang, Ala Somarowthu, Ethan M Goldber. VIP interneuron impairment promotes in vivo circuit dysfunction and autism-related behaviors in Dravet syndrome. Cell reports. vol 42. issue 6. 2023-06-13. PMID:37310860. |
dravet syndrome (ds) is a severe neurodevelopmental disorder caused by loss-of-function variants in scn1a, which encodes the voltage-gated sodium channel subunit nav1.1. |
2023-06-13 |
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 |
| 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 |
| Rogério R Gerbatin, Joana Augusto, Halima Boutouil, Cristina R Reschke, David C Henshal. Life-span characterization of epilepsy and comorbidities in Dravet syndrome mice carrying a targeted deletion of exon 1 of the Scn1a gene. Experimental neurology. 2022-04-29. PMID:35487274. |
dravet syndrome (ds) is a catastrophic form of paediatric epilepsy associated with multiple comorbidities mainly caused by mutations in the scn1a gene. |
2022-04-29 |
2023-08-13 |
mouse |
| Rogério R Gerbatin, Joana Augusto, Halima Boutouil, Cristina R Reschke, David C Henshal. Life-span characterization of epilepsy and comorbidities in Dravet syndrome mice carrying a targeted deletion of exon 1 of the Scn1a gene. Experimental neurology. 2022-04-29. PMID:35487274. |
mice that are haploinsufficient for scn1a faithfully model each stage of ds, although various aspects have not been fully described, including the temporal appearance and sex differences of the epilepsy and comorbidities. |
2022-04-29 |
2023-08-13 |
mouse |
| Rogério R Gerbatin, Joana Augusto, Halima Boutouil, Cristina R Reschke, David C Henshal. Life-span characterization of epilepsy and comorbidities in Dravet syndrome mice carrying a targeted deletion of exon 1 of the Scn1a gene. Experimental neurology. 2022-04-29. PMID:35487274. |
the aim of the present study was to investigate the epilepsy landscape according to the progression of ds and the long-term co-morbidities in the scn1a(+/-) |
2022-04-29 |
2023-08-13 |
mouse |
| Jennifer C Wong, Lindsey Shapiro, Jacquelyn T Thelin, Elizabeth C Heaton, Rokon U Zaman, Martin J D'Souza, Kevin S Murnane, Andrew Escay. Nanoparticle encapsulated oxytocin increases resistance to induced seizures and restores social behavior in Scn1a-derived epilepsy. Neurobiology of disease. vol 147. 2021-11-01. PMID:33189882. |
de novo loss-of-function mutations in the voltage-gated sodium channel scn1a are the main cause of ds, while genetic epilepsy with febrile seizures plus (gefs+), also characterized by early-life fss and afebrile epilepsy, is typically caused by inherited mutations that alter the biophysical properties of scn1a. |
2021-11-01 |
2023-08-13 |
mouse |
| Wei Shan, Xiaoling Yang, Qian Ren, Qun Wan. Generation of SCN1A Knock out induced pluripotent stem cell (iPSC) line. Stem cell research. vol 55. 2021-10-26. PMID:34247112. |
variants in scn1a result in a broad phenotypic spectrum of epilepsy syndromes, from mild genetic epilepsy with febrile seizures plus to severe dravet syndrome (ds). |
2021-10-26 |
2023-08-13 |
human |
| Chelsea D Pernici, Jeffrey A Mensah, E Jill Dahle, Kristina J Johnson, Laura Handy, Lauren Buxton, Misty D Smith, Peter J West, Cameron S Metcalf, Karen S Wilco. Development of an antiseizure drug screening platform for Dravet syndrome at the NINDS contract site for the Epilepsy Therapy Screening Program. Epilepsia. vol 62. issue 7. 2021-10-15. PMID:34002394. |
to facilitate the development of asds for ds, the contract site of the national institute of neurological disorders and stroke (ninds) epilepsy therapy screening program (etsp) has evaluated a mouse model of ds using the conditional knock-in scn1a |
2021-10-15 |
2023-08-13 |
mouse |
| 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 |
| 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 |
| Paul G Hatini, Kathryn G Common. A 5-HT The European journal of neuroscience. vol 52. issue 10. 2021-06-21. PMID:32394465. |
a 5-ht mutations in the scn1a gene encoding the nav1.1 sodium channel cause several forms of epilepsy, the most severe is dravet syndrome (ds). |
2021-06-21 |
2023-08-13 |
mouse |
| Paul G Hatini, Kathryn G Common. A 5-HT The European journal of neuroscience. vol 52. issue 10. 2021-06-21. PMID:32394465. |
to improve understanding of how serotonergic ligands might influence ds in this study, we tested several drugs for their effect on hyperthermia-induced seizure using a mouse model of ds consisting of a heterozygous loss of function of scn1a. |
2021-06-21 |
2023-08-13 |
mouse |