| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Raidah S Al-Baradi. Dravet syndrome, what is new? Neurosciences (Riyadh, Saudi Arabia). vol 18. issue 1. 2013-04-11. PMID:23291792. |
the prevalence of ds is 3-6% of epilepsy cases in infancy, and the incidence is less than one per 40,000 infants. |
2013-04-11 |
2023-08-12 |
Not clear |
| Rima Nabbout, Catherine Chiro. Stiripentol: an example of antiepileptic drug development in childhood epilepsies. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 16 Suppl 1. 2013-03-12. PMID:22695038. |
the efficacy of stiripentol (stp) in dravet syndrome (ds) was discovered first in an exploratory study in pediatric pharmacoresistant epilepsies. |
2013-03-12 |
2023-08-12 |
Not clear |
| Renzo Guerrin. Dravet syndrome: the main issues. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 16 Suppl 1. 2013-03-12. PMID:22705271. |
dravet syndrome (ds) is a severe form of infantile onset epilepsy characterized by multiple seizure types, prolonged convulsive seizures and frequent episodes of status epilepticus. |
2013-03-12 |
2023-08-12 |
mouse |
| Daniel Carranza Rojo, A Simon Harvey, Xenia Iona, Leanne M Dibbens, John A Damiano, Todor Arsov, Deepak Gill, Jeremy L Freeman, Richard J Leventer, Angela Vincent, Samuel F Berkovic, Jacinta M McMahon, Ingrid E Scheffe. Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations. Epilepsy research. vol 100. issue 1-2. 2013-02-08. PMID:22386634. |
two distinctive epileptic encephalopathies, febrile infection-related epilepsy syndrome (fires) and dravet syndrome (ds), present with febrile status epilepticus in a normal child followed by refractory focal seizures and cognitive decline although there are differentiating features. |
2013-02-08 |
2023-08-12 |
Not clear |
| Christine S Cheah, Frank H Yu, Ruth E Westenbroek, Franck K Kalume, John C Oakley, Gregory B Potter, John L Rubenstein, William A Catteral. Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome. Proceedings of the National Academy of Sciences of the United States of America. vol 109. issue 36. 2012-11-26. PMID:22908258. |
heterozygous loss-of-function mutations in the brain sodium channel na(v)1.1 cause dravet syndrome (ds), a pharmacoresistant infantile-onset epilepsy syndrome with comorbidities of cognitive impairment and premature death. |
2012-11-26 |
2023-08-12 |
mouse |
| Christine S Cheah, Frank H Yu, Ruth E Westenbroek, Franck K Kalume, John C Oakley, Gregory B Potter, John L Rubenstein, William A Catteral. Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome. Proceedings of the National Academy of Sciences of the United States of America. vol 109. issue 36. 2012-11-26. PMID:22908258. |
previous studies using a mouse model of ds revealed reduced sodium currents and impaired excitability in gabaergic interneurons in the hippocampus, leading to the hypothesis that impaired excitability of gabaergic inhibitory neurons is the cause of epilepsy and premature death in ds. |
2012-11-26 |
2023-08-12 |
mouse |
| Christine S Cheah, Frank H Yu, Ruth E Westenbroek, Franck K Kalume, John C Oakley, Gregory B Potter, John L Rubenstein, William A Catteral. Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome. Proceedings of the National Academy of Sciences of the United States of America. vol 109. issue 36. 2012-11-26. PMID:22908258. |
evidently, loss of na(v)1.1 channels in forebrain gabaergic neurons is both necessary and sufficient to cause epilepsy and premature death in ds. |
2012-11-26 |
2023-08-12 |
mouse |
| Amanda W Pong, Brianna R Geary, Kris M Engelstad, Ashwini Natarajan, Hong Yang, Darryl C De Viv. Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes. Epilepsia. vol 53. issue 9. 2012-11-16. PMID:22812641. |
glut 1 deficiency syndrome (ds) is defined by hypoglycorrhachia with normoglycemia, acquired microcephaly, episodic movements, and epilepsy refractory to standard antiepileptic drugs (aeds). |
2012-11-16 |
2023-08-12 |
Not clear |
| Amanda W Pong, Brianna R Geary, Kris M Engelstad, Ashwini Natarajan, Hong Yang, Darryl C De Viv. Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes. Epilepsia. vol 53. issue 9. 2012-11-16. PMID:22812641. |
our purpose is (1) to describe epilepsy phenotypes in a large glut 1 ds cohort, to facilitate diagnosis; and (2) to describe cases in which non-kd agents achieved seizure freedom (sf), highlighting potential adjunctive treatments. |
2012-11-16 |
2023-08-12 |
Not clear |