| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| David Emes, Anke Hüls, Nicole Baumer, Mara Dierssen, Shiela Puri, Lauren Russell, Stephanie L Sherman, Andre Strydom, Stefania Bargagna, Ana Cláudia Brandão, Alberto C S Costa, Patrick T Feany, Brian Allen Chicoine, Sujay Ghosh, Anne-Sophie Rebillat, Giuseppina Sgandurra, Diletta Valentini, Tilman R Rohrer, Johannes Levin, Monica Lakhanpaul, On Behalf Of The Trisomy Research Society Covid-Initiative Study Grou. COVID-19 in Children with Down Syndrome: Data from the Trisomy 21 Research Society Survey. Journal of clinical medicine. vol 10. issue 21. 2021-11-18. PMID:34768645. |
older age, obesity, and epilepsy were significant risk factors for hospitalisation among paediatric covid-19 patients with ds, and age and thyroid disorder were significant risk factors for acute respiratory distress syndrome. |
2021-11-18 |
2023-08-13 |
Not clear |
| Júlia Sala-Coromina, Miquel Raspall-Chaure, Anna Marcé-Grau, Alejandro Martinez de la Ossa, Alfons Macay. Early-onset eyelid stereotypies are a frequent and distinctive feature in Dravet syndrome. Seizure. vol 92. 2021-11-16. PMID:34521063. |
dravet syndrome (ds) is a severe infantile-onset epilepsy syndrome featuring drug resistant epilepsy, global developmental delay and intellectual disability. |
2021-11-16 |
2023-08-13 |
Not clear |
| Siu Hing Lo, Andrew Lloyd, Jade Marshall, Kishan Vya. Patient and Caregiver Health State Utilities in Lennox-Gastaut Syndrome and Dravet Syndrome. Clinical therapeutics. 2021-11-14. PMID:34774333. |
lennox-gastaut syndrome (lgs) and dravet syndrome (ds) are rare, treatment-resistant forms of epilepsy characterized by childhood onset of seizures. |
2021-11-14 |
2023-08-13 |
Not clear |
| Huifang Zhao, Shuai Li, Lang He, Feng Tang, Xiaobo Han, Weiyue Deng, Zuoxian Lin, Rongqi Huang, Zhiyuan L. Ameliorating Effect of Umbilical Cord Mesenchymal Stem Cells in a Human Induced Pluripotent Stem Cell Model of Dravet Syndrome. Molecular neurobiology. 2021-11-12. PMID:34766239. |
dravet syndrome (ds) is a form of severe childhood-onset refractory epilepsy typically caused by a heterozygous loss-of-function mutation. |
2021-11-12 |
2023-08-13 |
human |
| Nicole Chemaly, Mathieu Kuchenbuch, Théo Teng, Elodie Marie, Gianluca D'Onofrio, Tommaso Lo Barco, Isabella Brambilla, Silke Flege, Anne-Sophie Hallet, Rima Nabbou. A European pilot study in Dravet Syndrome to delineate what really matters for the patients and families. Epilepsia open. 2021-11-08. PMID:34747137. |
we conducted a prospective european multicentre study based on a 11-closed questions' survey developed by the french reference centre for rare epilepsies and ds patients' advocacy groups. |
2021-11-08 |
2023-08-13 |
Not clear |
| Christine S Cheah, Megan A Beckman, William A Catterall, John C Oakle. Sharp-Wave Ripple Frequency and Interictal Epileptic Discharges Increase in Tandem During Thermal Induction of Seizures in a Mouse Model of Genetic Epilepsy. Frontiers in cellular neuroscience. vol 15. 2021-11-05. PMID:34733140. |
dravet syndrome (ds) is a genetic, infantile-onset epilepsy with refractory seizures and severe cognitive impairment. |
2021-11-05 |
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 |
| Kouya Uchino, Hiroyuki Kawano, Yasuyoshi Tanaka, Yuna Adaniya, Ai Asahara, Masanobu Deshimaru, Kaori Kubota, Takuya Watanabe, Shutaro Katsurabayashi, Katsunori Iwasaki, Shinichi Hiros. Inhibitory synaptic transmission is impaired at higher extracellular Ca Scientific reports. vol 11. issue 1. 2021-10-29. PMID:34017040. |
inhibitory synaptic transmission is impaired at higher extracellular ca dravet syndrome (ds) is an intractable form of childhood epilepsy that occurs in infancy. |
2021-10-29 |
2023-08-13 |
Not clear |
| 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 |
| Tal Benoliel, Tal Gilboa, Paz Har-Shai Yahav, Revital Zelker, Bilha Kreigsberg, Evgeny Tsizin, Oshrit Arviv, Dana Ekstein, Mordekhay Medvedovsk. Digital Semiology: A Prototype for Standardized, Computer-Based Semiologic Encoding of Seizures. Frontiers in neurology. vol 12. 2021-10-23. PMID:34675865. |
sixty episodes from a mixed adult and pediatric cohort from one level 4 epilepsy center vem archives were analyzed using ds and the reports were compared with the standard freeform ones, written by the same epileptologists. |
2021-10-23 |
2023-08-13 |
Not clear |
| Cara J Westmark, Crystal M Hervey, Elizabeth M Berry-Kravis, James S Malte. Effect of Anticoagulants on Amyloid β-Protein Precursor and Amyloid Beta Levels in Plasma. Journal of Alzheimer's disease & Parkinsonism. vol 1. 2021-10-21. PMID:23459194. |
altered levels of amyloid β-protein precursor (aβpp) and/or amyloid beta (aβ) are characteristic of several neurological disorders including alzheimer's disease (ad), down syndrome (ds), fragile x syndrome (fxs), parkinson's disease (pd), autism and epilepsy. |
2021-10-21 |
2023-08-12 |
Not clear |
| Chia-Hsuan Huang, Pi-Lien Hung, Pi-Chuan Fan, Kuang-Lin Lin, Ting-Rong Hsu, I-Jun Chou, Che-Sheng Ho, I-Ching Chou, Wei-Sheng Lin, Inn-Chi Lee, Hueng-Chuen Fan, Shyi-Jou Chen, Jao-Shwann Liang, Yi-Fang Tu, Tung-Ming Chang, Su-Ching Hu, Lee-Chin Wong, Kun-Long Hung, Wang-Tso Le. Clinical spectrum and the comorbidities of Dravet syndrome in Taiwan and the possible molecular mechanisms. Scientific reports. vol 11. issue 1. 2021-10-16. PMID:34642351. |
dravet syndrome (ds) is an uncommon epilepsy syndrome that may negatively affect the patients and their caregivers. |
2021-10-16 |
2023-08-13 |
Not clear |
| 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 |
| Domenica Battaglia, Daniela Chieffo, Simona Lucibello, Carla Marini, Valentina Sibilia, Davide Mei, Francesca Darra, Francesca Offredi, Elena Fontana, Nicola Specchio, Simona Cappelletti, Tiziana Granata, Francesca Ragona, Mara Patrini, Maria G Baglietto, Giulia Prato, Annarita Ferrari, Federico Vigevano, Eugenio Mercuri, Bernardo Dalla Bernardina, Renzo Guerrini, Charlotte Dravet, Francesco Guzzett. Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life. Brain & development. vol 43. issue 3. 2021-10-04. PMID:33478845. |
the objective of this study was to identify developmental trajectories of developmental/behavioral phenotypes and possibly their relationship to epilepsy and genotype by analyzing developmental and behavioral features collected prospectively and longitudinally in a cohort of patients with dravet syndrome (ds). |
2021-10-04 |
2023-08-13 |
human |
| Adam Strzelczyk, Milka Pringsheim, Thomas Mayer, Tilman Polster, Kerstin A Klotz, Hiltrud Muhle, Michael Alber, Regina Trollmann, Hartwig Spors, Gerhard Kluger, Gerhard Kurlemann, Susanne Schubert-Bas. Efficacy, tolerability, and retention of fenfluramine for the treatment of seizures in patients with Dravet syndrome: Compassionate use program in Germany. Epilepsia. vol 62. issue 10. 2021-10-01. PMID:34378197. |
dravet syndrome (ds) is a rare but severe drug-resistant epilepsy. |
2021-10-01 |
2023-08-13 |
Not clear |
| Margherita Bertuccelli, Karen Verheyen, Ann Hallemans, Josemir W Sander, Francesca Ragona, Patrizia Bisiacchi, Stefano Masiero, Alessandra Del Felic. Deconstructing Dravet syndrome neurocognitive development: A scoping review. Epilepsia. vol 62. issue 4. 2021-09-21. PMID:33646591. |
dravet syndrome (ds) is a rare severe epilepsy syndrome associated with slowed psychomotor development and behavioral disorders from the second year onward in a previously seemingly normal child. |
2021-09-21 |
2023-08-13 |
Not clear |
| Shu-Hui Chuang, Ruth E Westenbroek, Nephi Stella, William A Catteral. Combined Antiseizure Efficacy of Cannabidiol and Clonazepam in a Conditional Mouse Model of Dravet Syndrome. Journal of experimental neurology. vol 2. issue 2. 2021-07-27. PMID:34308420. |
dravet syndrome (ds) is a severe childhood epilepsy caused by heterozygous loss-of-function mutations in the |
2021-07-27 |
2023-08-13 |
mouse |
| 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 |