| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Rima Nabbout, Nicole Chemaly, Mathilde Chipaux, Giulia Barcia, Charles Bouis, Celia Dubouch, Dorothee Leunen, Isabelle Jambaqué, Olivier Dulac, Georges Dellatolas, Catherine Chiro. Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy. Orphanet journal of rare diseases. vol 8. 2014-07-17. PMID:24225340. |
our objective was to prospectively analyze the neuropsychological features in a large cohort of ds patients and its relationships with epilepsy and scn1a mutation. |
2014-07-17 |
2023-08-12 |
Not clear |
| Tao Zeng, Zhao-Fei Dong, Shu-Jing Liu, Rui-Ping Wan, Ling-Jia Tang, Ting Liu, Qi-Hua Zhao, Yi-Wu Shi, Yong-Hong Yi, Wei-Ping Liao, Yue-Sheng Lon. A novel variant in the 3' UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH's binding. Human genetics. vol 133. issue 6. 2014-06-26. PMID:24464349. |
mutations in the scn1a gene-encoding voltage-gated sodium channel α-i subunit (nav1.1) cause various spectrum of epilepsies including dravet syndrome (ds), a severe and intractable form. |
2014-06-26 |
2023-08-12 |
human |
| Franck Kalum. Sudden unexpected death in Dravet syndrome: respiratory and other physiological dysfunctions. Respiratory physiology & neurobiology. vol 189. issue 2. 2014-06-02. PMID:23850567. |
ds is a severe infantile-onset epilepsy caused by a heterozygote loss-of-function mutation in scn1a, which encodes the voltage-gated-sodium channel nav 1.1. |
2014-06-02 |
2023-08-12 |
Not clear |
| John C Mulley, Bree Hodgson, Jacinta M McMahon, Xenia Iona, Susannah Bellows, Saul A Mullen, Kevin Farrell, Mark Mackay, Lynette Sadleir, Andrew Bleasel, Deepak Gill, Richard Webster, Elaine C Wirrell, Michael Harbord, Sanyjay Sisodiya, Eva Andermann, Sara Kivity, Samuel F Berkovic, Ingrid E Scheffer, Leanne M Dibben. Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. Epilepsia. vol 54. issue 9. 2013-11-13. PMID:23895530. |
mutations of the scn1a subunit of the sodium channel is a cause of genetic epilepsy with febrile seizures plus (gefs(+) ) in multiplex families and accounts for 70-80% of dravet syndrome (ds). |
2013-11-13 |
2023-08-12 |
Not clear |
| Yu Liu, Luis F Lopez-Santiago, Yukun Yuan, Julie M Jones, Helen Zhang, Heather A O'Malley, Gustavo A Patino, Janelle E O'Brien, Raffaella Rusconi, Ajay Gupta, Robert C Thompson, Marvin R Natowicz, Miriam H Meisler, Lori L Isom, Jack M Paren. Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism. Annals of neurology. vol 74. issue 1. 2013-11-07. PMID:23821540. |
one particularly devastating channelopathy is dravet syndrome (ds), a severe childhood epilepsy typically caused by de novo dominant mutations in the scn1a gene encoding the voltage-gated sodium channel na(v) 1.1. |
2013-11-07 |
2023-08-12 |
mouse |
| Yakup Ergul, Baris Ekici, Burak Tatli, Kemal Nisli, Meral Ozme. QT and P wave dispersion and heart rate variability in patients with Dravet syndrome. Acta neurologica Belgica. vol 113. issue 2. 2013-10-22. PMID:23065439. |
scn1a mutations are found in up to 80 % of patients with dravet syndrome (ds), and the sudden unexpected death in epilepsy (sudep) rate is higher in ds than in most forms of severe epilepsy. |
2013-10-22 |
2023-08-12 |
human |
| Jan Moehring, Sarah von Spiczak, Friederike Moeller, Ingo Helbig, Stephan Wolff, Olav Jansen, Hiltrud Muhle, Rainer Boor, Ulrich Stephani, Michael Siniatchki. Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndrome. Epilepsia. vol 54. issue 5. 2013-06-25. PMID:23398550. |
dravet syndrome (ds) or severe myoclonic epilepsy of infancy is an intractable epileptic encephalopathy of early childhood that is caused by a mutation in the scn1a gene in most patients. |
2013-06-25 |
2023-08-12 |
Not clear |
| Shinichi Hirose, Ingrid E Scheffer, Carla Marini, Peter De Jonghe, Eva Andermann, Alica M Goldman, Marcelo Kauffman, Nigel C K Tan, Daniel H Lowenstein, Sanjay M Sisodiya, Ruth Ottman, Samuel F Berkovi. SCN1A testing for epilepsy: application in clinical practice. Epilepsia. vol 54. issue 5. 2013-06-25. PMID:23586701. |
(2) scn1a testing should be considered in people with possible ds where the typical initial presentation is of a developmentally normal infant presenting with recurrent, febrile or afebrile prolonged, hemiclonic seizures or generalized status epilepticus. |
2013-06-25 |
2023-08-12 |
Not clear |
| John C Oakley, Alvin R Cho, Christine S Cheah, Todd Scheuer, William A Catteral. Synergistic GABA-enhancing therapy against seizures in a mouse model of Dravet syndrome. The Journal of pharmacology and experimental therapeutics. vol 345. issue 2. 2013-06-17. PMID:23424217. |
an extreme example is dravet syndrome (ds), an infantile-onset severe epilepsy caused by heterozygous loss of function mutations in scn1a, the gene encoding the brain type-i voltage-gated sodium channel nav1.1. |
2013-06-17 |
2023-08-12 |
mouse |
| Franck Kalume, Ruth E Westenbroek, Christine S Cheah, Frank H Yu, John C Oakley, Todd Scheuer, William A Catteral. Sudden unexpected death in a mouse model of Dravet syndrome. The Journal of clinical investigation. vol 123. issue 4. 2013-05-20. PMID:23524966. |
dravet syndrome (ds) is an infantile-onset intractable epilepsy caused by heterozygous loss-of-function mutations in the scn1a gene, which encodes brain type-i voltage-gated sodium channel nav1.1. |
2013-05-20 |
2023-08-12 |
mouse |
| Ji-wen Wang, Xiu-yu Shi, Hirokazu Kurahashi, Su-Kyeong Hwang, Atsushi Ishii, Norimichi Higurashi, Sunao Kaneko, Shinichi Hiros. Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. Epilepsy research. vol 102. issue 3. 2013-05-09. PMID:23195492. |
in this study, we determined the prevalence of scn1a mutations (scn1a, scn2a, scn1b and scn2b) in 448 patients with suspected ds and intractable childhood epilepsy. |
2013-05-09 |
2023-08-12 |
Not clear |
| Gregory L Holmes, Alex C Bender, Edie X Wu, Rod C Scott, Pierre Pascal Lenck-Santini, Richard P Mors. Maturation of EEG oscillations in children with sodium channel mutations. Brain & development. vol 34. issue 6. 2012-10-12. PMID:21940124. |
the majority of children with ds carry mutations of the gene scn1a, which codes for the alpha subunit of the type 1 voltage-gated sodium channel and is important for the function of interneurons. |
2012-10-12 |
2023-08-12 |
Not clear |
| Y-W Shi, M-J Yu, Y-S Long, B Qin, N He, H Meng, X-R Liu, W-Y Deng, M-M Gao, Y-H Yi, B-M Li, W-P Lia. Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures. Genes, brain, and behavior. vol 11. issue 2. 2012-07-19. PMID:22151702. |
mutations of scn1a generate phenotypes ranging from the extremely severe form of dravet syndrome (ds) to a mild form of generalized epilepsy with febrile seizures plus (gefs+). |
2012-07-19 |
2023-08-12 |
Not clear |
| Linda Volkers, Kristopher M Kahlig, Nienke E Verbeek, Joost H G Das, Marjan J A van Kempen, Hans Stroink, Paul Augustijn, Onno van Nieuwenhuizen, Dick Lindhout, Alfred L George, Bobby P C Koeleman, Martin B Roo. Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. The European journal of neuroscience. vol 34. issue 8. 2012-03-09. PMID:21864321. |
relatively few scn1a mutations associated with genetic epilepsy with febrile seizures-plus (gefs+) and dravet syndrome (ds) have been functionally characterized. |
2012-03-09 |
2023-08-12 |
Not clear |
| Stacey B B Dutton, Nikki T Sawyer, Franck Kalume, Patricia Jumbo-Lucioni, Karin Borges, William A Catterall, Andrew Escay. Protective effect of the ketogenic diet in Scn1a mutant mice. Epilepsia. vol 52. issue 11. 2011-12-19. PMID:21801172. |
we evaluated the ability of the ketogenic diet (kd) to improve thresholds to flurothyl-induced seizures in two mouse lines with scn1a mutations: one that models dravet syndrome (ds) and another that models genetic (generalized) epilepsy with febrile seizures plus (gefs+). |
2011-12-19 |
2023-08-12 |
mouse |
| Iglika Yordanova, Tihomir Todorov, Petia Dimova, Dimitrina Hristova, Radka Tincheva, Ivan Litvinenko, Olga Yotovska, Ivo Kremensky, Albena Todorov. One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene. Neuroscience letters. vol 494. issue 2. 2011-08-02. PMID:21396429. |
mutations in scn1a gene, encoding the voltage-gated sodium channel α1-subunit, are found to be associated with severe myoclonic epilepsy in infancy or dravet syndrome (ds), but only rarely with the myoclonic astatic epilepsy (mae, or doose syndrome). |
2011-08-02 |
2023-08-12 |
Not clear |
| Iglika Yordanova, Tihomir Todorov, Petia Dimova, Dimitrina Hristova, Radka Tincheva, Ivan Litvinenko, Olga Yotovska, Ivo Kremensky, Albena Todorov. One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene. Neuroscience letters. vol 494. issue 2. 2011-08-02. PMID:21396429. |
we report on two patients with scn1a mutations and severe epilepsy within the spectrum of generalized epilepsy with febrile seizures plus syndrome (gefs+), the phenotypes being consistent with ds and mae, respectively. |
2011-08-02 |
2023-08-12 |
Not clear |
| Huihui Sun, Yuehua Zhang, Xiaoyan Liu, Xiuwei Ma, Zhixian Yang, Jiong Qin, Yuwu Jiang, Yu Qi, Xiru W. Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. Journal of human genetics. vol 55. issue 7. 2010-11-16. PMID:20431604. |
dravet syndrome (ds) or severe myoclonic epilepsy of infancy is an intractable epileptic syndrome that is caused by mutations in the neuronal voltage-gated sodium channel alpha1 subunit gene scn1a. |
2010-11-16 |
2023-08-12 |
Not clear |
| Carla Marini, Ingrid E Scheffer, Rima Nabbout, Davide Mei, Kathy Cox, Leanne M Dibbens, Jacinta M McMahon, Xenia Iona, Rochio Sanchez Carpintero, Maurizio Elia, Maria Roberta Cilio, Nicola Specchio, Lucio Giordano, Pasquale Striano, Elena Gennaro, J Helen Cross, Sara Kivity, Miriam Y Neufeld, Zaid Afawi, Eva Andermann, Daniel Keene, Olivier Dulac, Federico Zara, Samuel F Berkovic, Renzo Guerrini, John C Mulle. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia. vol 50. issue 7. 2010-10-15. PMID:19400878. |
we aimed to determine the type, frequency, and size of microchromosomal copy number variations (cnvs) affecting the neuronal sodium channel α 1 subunit gene (scn1a) in dravet syndrome (ds), other epileptic encephalopathies, and generalized epilepsy with febrile seizures plus (gefs+). |
2010-10-15 |
2023-08-12 |
Not clear |
| Christel Depienne, Oriane Trouillard, Isabelle Gourfinkel-An, Cécile Saint-Martin, Delphine Bouteiller, Denis Graber, Marie-Anne Barthez-Carpentier, Agnès Gautier, Nathalie Villeneuve, Charlotte Dravet, Marie-Odile Livet, Clothilde Rivier-Ringenbach, Claude Adam, Sophie Dupont, Stéphanie Baulac, Delphine Héron, Rima Nabbout, Eric Leguer. Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. Journal of medical genetics. vol 47. issue 6. 2010-09-15. PMID:20522430. |
background mutations in scn1a can cause genetic epilepsy with febrile seizures plus (gefs+, inherited missense mutations) or dravet syndrome (ds, de novo mutations of all types). |
2010-09-15 |
2023-08-12 |
Not clear |