| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Judith Bluvstein, Susanna Wennige. Two Perspectives on Dravet Syndrome: Viewpoints from the Clinician and the Caregiver. Neurology and therapy. 2023-02-16. PMID:36795289. |
dravet syndrome (ds) is a severe genetic epilepsy characterized by early-life onset, seizures, and neurodevelopmental delays that have major impacts on affected children. |
2023-02-16 |
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 |
| Aaron Del Pozo, Melissa Barker-Halisk. Cannabidiol reveals a disruptive strategy for 21st century epilepsy drug discovery. Experimental neurology. vol 360. 2022-12-06. PMID:36471511. |
nonetheless, cbd possesses a broad antiseizure profile in preclinical seizure and epilepsy models, but the transformative impact of cbd'-s approval came because of studies in a rodent model of the orphan disease dravet syndrome (ds). |
2022-12-06 |
2023-08-14 |
Not clear |
| Aaron Del Pozo, Melissa Barker-Halisk. Cannabidiol reveals a disruptive strategy for 21st century epilepsy drug discovery. Experimental neurology. vol 360. 2022-12-06. PMID:36471511. |
because of the clinical approval of cbd as a novel, cannabis plantderived asm for ds, cbd has revealed a new strategy in asm discovery to reignite 21st century therapeutic development for epilepsy. |
2022-12-06 |
2023-08-14 |
Not clear |
| Zimeng He, Yumei Li, Xiaoyu Zhao, Baomin L. Dravet syndrome: Advances in etiology, clinical presentation, and treatment. Epilepsy research. vol 188. 2022-11-11. PMID:36368227. |
dravet syndrome (ds) is a form of genetic refractory epilepsy. |
2022-11-11 |
2023-08-14 |
Not clear |
| Rogério R Gerbatin, Joana Augusto, Gareth Morris, Aoife Campbell, Jesper Worm, Elena Langa, Cristina R Reschke, David C Henshal. Investigation of MicroRNA-134 as a Target against Seizures and SUDEP in a Mouse Model of Dravet Syndrome. eNeuro. vol 9. issue 5. 2022-10-14. PMID:36240080. |
dravet syndrome (ds) is a catastrophic form of pediatric epilepsy mainly caused by noninherited mutations in the |
2022-10-14 |
2023-08-14 |
mouse |
| Ashna Talwar, Emily Estes, Rajender Aparasu, Doodipala Samba Redd. Clinical efficacy and safety of cannabidiol for pediatric refractory epilepsy indications: A systematic review and meta-analysis. Experimental neurology. 2022-10-07. PMID:36206805. |
in this study, we evaluated the overall clinical potential of oral cbd to treat refractory epilepsy in patients with dravet syndrome (ds), lennox-gastaut syndrome (lgs), and tuberous sclerosis complex (tsc) through a systematic review and meta-analysis. |
2022-10-07 |
2023-08-14 |
Not clear |
| Rosa Chiara Goisis, Angela Chiavegato, Marta Gomez-Gonzalo, Iacopo Marcon, Linda Maria Requie, Petra Scholze, Giorgio Carmignoto, Gabriele Los. GABA tonic currents and glial cells are altered during epileptogenesis in a mouse model of Dravet syndrome. Frontiers in cellular neuroscience. vol 16. 2022-08-08. PMID:35936501. |
dravet syndrome (ds) is a rare autosomic encephalopathy with epilepsy linked to na |
2022-08-08 |
2023-08-14 |
mouse |
| Cecil D Hahn, Yuwu Jiang, Vicente Villanueva, Marta Zolnowska, Dimitrios Arkilo, Samuel Hsiao, Mahnaz Asgharnejad, Dennis Dlugo. A phase 2, randomized, double-blind, placebo-controlled study to evaluate the efficacy and safety of soticlestat as adjunctive therapy in pediatric patients with Dravet syndrome or Lennox-Gastaut syndrome (ELEKTRA). Epilepsia. 2022-07-16. PMID:35841234. |
dravet syndrome (ds) and lennox-gastaut syndrome (lgs) are rare treatment-resistant childhood epilepsies classed as developmental and epileptic encephalopathies. |
2022-07-16 |
2023-08-14 |
Not clear |
| Antonio Gil-Nagel, Mercè Falip, Rocío Sánchez-Carpintero, María Reyes Abad-Sazatornil, José Luis Poveda, José Ángel Aibar, Elena Cardenal-Muñoz, Luis Miguel Aras, Rosa Sánchez, Arantxa Sancho-López, José Luis Trillo-Mata, María Torrejón, Alicia Gi. The contribution of fenfluramine to the treatment of Dravet syndrome in Spain through Multi-Criteria Decision Analysis. Epilepsy & behavior : E&B. vol 132. 2022-05-19. PMID:35588562. |
dravet syndrome (ds) is a severe, developmental epileptic encephalopathy (dee) that begins in infancy and is characterized by pharmaco-resistant epilepsy and neurodevelopmental delay. |
2022-05-19 |
2023-08-13 |
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 |
| Maria Cristina Bisi, Roberto Di Marco, Francesca Ragona, Francesca Darra, Marilena Vecchi, Stefano Masiero, Alessandra Del Felice, Rita Stagn. Quantitative Characterization of Motor Control during Gait in Dravet Syndrome Using Wearable Sensors: A Preliminary Study. Sensors (Basel, Switzerland). vol 22. issue 6. 2022-03-26. PMID:35336311. |
dravet syndrome (ds) is a rare and severe form of genetic epilepsy characterized by cognitive and behavioural impairments and progressive gait deterioration. |
2022-03-26 |
2023-08-13 |
human |
| R Albaradie, D N Baig, S Bashi. Sodium voltage-gated channel alpha subunit 9 mutation in epilepsy. European review for medical and pharmacological sciences. vol 25. issue 24. 2022-01-04. PMID:34982449. |
in humans, gene mutations in voltage-gated sodium channels can cause a range of epileptic symptoms, including genetic (generalized) epilepsy with febrile seizures plus (gefs+) and dravet syndrome (ds). |
2022-01-04 |
2023-08-13 |
Not clear |
| Dana Craiu, Zvonka Rener Primec, Lieven Lagae, Federico Vigevano, Eugen Trinka, Nicola Specchio, Sophia Bakhtadze, Cristina Cazacu, Tanja Golli, Sameer M Zuber. Vaccination and childhood epilepsies. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 36. 2021-12-18. PMID:34922162. |
the evidence relating vaccination to febrile seizures and epilepsy is evaluated with an emphasis on febrile seizures (fs), dravet syndrome (ds), west syndrome, and other developmental and epileptic encephalopathies. |
2021-12-18 |
2023-08-13 |
Not clear |
| Elena Cardenal-Muñoz, Stéphane Auvin, Vicente Villanueva, J Helen Cross, Sameer M Zuberi, Lieven Lagae, José Ángel Aiba. Guidance on Dravet Syndrome from Infant to Adult Care: Road Map for Treatment Planning in Europe. Epilepsia open. 2021-12-09. PMID:34882995. |
evidence suggests that optimal treatment of seizures in ds may improve outcomes, even though neurodevelopmental impairments are the likely result of both the underlying genetic variant and the epilepsy. |
2021-12-09 |
2023-08-13 |
Not clear |
| Anna Ka-Yee Kwong, Virginia Chun-Nei Wong, Sheila Suet-Na Wong, Vanessa Loi-Yan Chu, Saskia Koene, Jan Smeitink, Cheuk-Wing Fun. High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes. Epilepsia open. vol 6. issue 4. 2021-12-07. PMID:34379890. |
dravet syndrome (ds) is a severe and intractable form of epilepsy with prolonged seizures which may evolve to other seizure types and associated with mild-to-severe intellectual disabilities. |
2021-12-07 |
2023-08-13 |
Not clear |
| Wei Shan, Guipeng An, Qian Ren, Qun Wan. Generation of SCN1B knock out induced pluripotent stem cell (iPSC) line (refractory epilepsy syndrome and Brugada syndrome related cell line). Stem cell research. vol 56. 2021-11-25. PMID:34583279. |
variants in scn1b resulted in genetic epilepsy with febrile seizures plus, severe dravet syndrome (ds), brugadasyndrome, atrial arrhythmias, and long qt-syndrome. |
2021-11-25 |
2023-08-13 |
human |