| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Linda Volkers, Kristopher M Kahlig, Joost H G Das, Marjan J A van Kempen, Dick Lindhout, Bobby P C Koeleman, Martin B Roo. Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation. The Journal of general physiology. vol 142. issue 6. 2014-07-17. PMID:24277604. |
dravet syndrome (ds) or severe myoclonic epilepsy of infancy has a complex phenotype including febrile generalized or hemiclonic convulsions before the age of 1, followed by intractable myoclonic, complex partial, or absence seizures. |
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 |
| Mingxuan X. Comment: Dravet syndrome--"old gene," novel mechanism. Neurology. vol 82. issue 14. 2014-06-18. PMID:24623837. |
dravet syndrome (ds, online mendelian inheritance in man#607208), or severe myoclonic epilepsy in infancy, is one of the most severe types of genetic epilepsy. |
2014-06-18 |
2023-08-12 |
Not clear |
| 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. |
sudden unexpected deaths in epilepsy (sudep) occur at an alarming higher rate in patients with dravet syndrome (ds) than in patients with most other forms of epilepsy. |
2014-06-02 |
2023-08-12 |
Not clear |
| 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 |
| 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. |
the mechanisms leading to sudep in ds or other epilepsies are not completely understood. |
2014-06-02 |
2023-08-12 |
Not clear |
| 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. |
understanding the pathophysiological mechanisms of sudep, common to most epilepsies and those specific to ds, may pave the way toward the discovery of effective preventive strategies for these epilepsy-related tragic events. |
2014-06-02 |
2023-08-12 |
Not clear |
| Wei-De Lin, Kai-Ping Chang, Chung-Hsing Wang, Shyi-Jou Chen, Pi-Chuan Fan, Wen-Chin Weng, Wei-Chiang Lin, Yushin Tsai, Chang-Hai Tsai, I-Ching Chou, Fuu-Jen Tsa. Molecular aspects of Dravet syndrome patients in Taiwan. Clinica chimica acta; international journal of clinical chemistry. vol 421. 2013-12-02. PMID:23485646. |
dravet syndrome (ds) is a rare form of intractable epilepsy. |
2013-12-02 |
2023-08-12 |
Not clear |
| Wei-De Lin, Kai-Ping Chang, Chung-Hsing Wang, Shyi-Jou Chen, Pi-Chuan Fan, Wen-Chin Weng, Wei-Chiang Lin, Yushin Tsai, Chang-Hai Tsai, I-Ching Chou, Fuu-Jen Tsa. Molecular aspects of Dravet syndrome patients in Taiwan. Clinica chimica acta; international journal of clinical chemistry. vol 421. 2013-12-02. PMID:23485646. |
several studies have demonstrated that certain gene mutations and submicroscopic copy number variations (cnv) in ds patients are strongly associated with intractable epilepsy. |
2013-12-02 |
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. |
mutations in this gene are frequently found in dravet syndrome (ds), and are sometimes found in genetic epilepsy with febrile seizures plus (gefs+), migrating partial seizures of infancy (mpsi), other infantile epileptic encephalopathies, and rarely in infantile spasms. |
2013-06-25 |
2023-08-12 |
Not clear |
| Mari Akiyama, Katsuhiro Kobayashi, Yoko Ohtsuk. Dravet syndrome: a genetic epileptic disorder. Acta medica Okayama. vol 66. issue 5. 2013-06-19. PMID:23093055. |
dravet syndrome (ds), or severe myoclonic epilepsy in infancy, is one of the most severe types of genetic epilepsy. |
2013-06-19 |
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 |
| Raidah S Al-Baradi. Dravet syndrome, what is new? Neurosciences (Riyadh, Saudi Arabia). vol 18. issue 1. 2013-04-11. PMID:23291792. |
dravet syndrome (ds) is one of the most severe genetic epilepsies of childhood. |
2013-04-11 |
2023-08-12 |
Not clear |
| Raidah S Al-Baradi. Dravet syndrome, what is new? Neurosciences (Riyadh, Saudi Arabia). vol 18. issue 1. 2013-04-11. PMID:23291792. |
a variant of ds called borderline severe myoclonic epilepsy in infancy has similar clinical and electrographic features without myoclonus. |
2013-04-11 |
2023-08-12 |
Not clear |