| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Xiuyu Shi, Sawa Yasumoto, Hirokazu Kurahashi, Eiji Nakagawa, Tatsuya Fukasawa, Satoshi Uchiya, Shinichi Hiros. Clinical spectrum of SCN2A mutations. Brain & development. vol 34. issue 7. 2012-11-08. PMID:22029951. |
mutations in scn2a, the gene encoding α2 subunit of the neuronal sodium channel, are associated with a variety of epilepsies: benign familial neonatal-infantile seizures (bfnis); genetic epilepsy with febrile seizures plus (gefs+); dravet syndrome (ds); and some intractable childhood epilepsies. |
2012-11-08 |
2023-08-12 |
Not clear |
| Gemma Incorpor. Dravet syndrome. Italian journal of pediatrics. vol 35. issue 1. 2012-10-02. PMID:19737414. |
"dravet syndrome" (ds) previously named severe myoclonic epilepsy of infancy (smei), or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy.ds is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized), which are typically resistant to antiepileptic drugs. |
2012-10-02 |
2023-08-12 |
Not clear |
| Véronique Brault, Benoît Martin, Nathalie Costet, Jean-Charles Bizot, Yann Héraul. Characterization of PTZ-induced seizure susceptibility in a down syndrome mouse model that overexpresses CSTB. PloS one. vol 6. issue 11. 2012-04-09. PMID:22140471. |
the cause of increased propensity for epilepsy in the ds population and which hsa21 gene(s) are implicated remain unknown. |
2012-04-09 |
2023-08-12 |
mouse |
| 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 |
| Carl L Faingold, Srinivasan Tupal, Marcus Randal. Prevention of seizure-induced sudden death in a chronic SUDEP model by semichronic administration of a selective serotonin reuptake inhibitor. Epilepsy & behavior : E&B. vol 22. issue 2. 2012-02-10. PMID:21783426. |
semichronic fluoxetine did not block seizures, but significantly reduced seizure-induced ra, which is consistent with effects of ssris on respiration in patients with epilepsy [bateman lm, li ds,lin tc, seyal m. epilepsia 2010;51:2211-4]. |
2012-02-10 |
2023-08-12 |
mouse |
| 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 |
| Nelia Zamponi, Claudia Passamonti, Silvia Cappanera, Cristina Petrell. Clinical course of young patients with Dravet syndrome after vagal nerve stimulation. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 15. issue 1. 2011-11-28. PMID:20971664. |
in the present study, the long-term effectiveness of vns on seizures, cognition and behavior was retrospectively evaluated in eight young patients with ds and medically refractory epilepsy (mean age at vns implant: 10.28 years, range: 5-25). |
2011-11-28 |
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. |
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 |
| Nourhène Fendri-Kriaa, Salma Boujilbene, Fatma Kammoun, Emna Mkaouar-Rebai, Afif Ben Mahmoud, Ines Hsairi, Ahmed Rebai, Chahnez Triki, Faiza Fakhfak. A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome. Biochemical and biophysical research communications. vol 408. issue 4. 2011-08-02. PMID:21531204. |
dravet syndrome (ds), previously known as severe myoclonic epilepsy of infancy, is one of the most severe forms of childhood epilepsy. |
2011-08-02 |
2023-08-12 |
Not clear |
| Susan Byrne, Jacinta Kearns, Ray Carolan, Joseph Mc Menamin, Joerg Klepper, David Web. Refractory absence epilepsy associated with GLUT-1 deficiency syndrome. Epilepsia. vol 52. issue 5. 2011-07-14. PMID:21366555. |
glut-1 deficiency syndrome (glut-1 ds) is a disorder of cerebral glucose transport associated with early infantile epilepsy and microcephaly. |
2011-07-14 |
2023-08-12 |
Not clear |
| Ravindra Arya, Madhulika Kabra, Sheffali Gulat. Epilepsy in children with Down syndrome. Epileptic disorders : international epilepsy journal with videotape. vol 13. issue 1. 2011-07-08. PMID:21398208. |
this review discusses the various aspects of epilepsy in down syndrome (ds) from the perspective of paediatric neurology. |
2011-07-08 |
2023-08-12 |
Not clear |
| Ravindra Arya, Madhulika Kabra, Sheffali Gulat. Epilepsy in children with Down syndrome. Epileptic disorders : international epilepsy journal with videotape. vol 13. issue 1. 2011-07-08. PMID:21398208. |
ds is the most common genetic cause of mental retardation (mr) with a reported prevalence of epilepsy of 1-13%. |
2011-07-08 |
2023-08-12 |
Not clear |
| Ravindra Arya, Madhulika Kabra, Sheffali Gulat. Epilepsy in children with Down syndrome. Epileptic disorders : international epilepsy journal with videotape. vol 13. issue 1. 2011-07-08. PMID:21398208. |
infantile spasms (is) or west syndrome (ws) is the most frequent epilepsy syndrome in children with ds. |
2011-07-08 |
2023-08-12 |
Not clear |
| Carla Marini, Ingrid E Scheffer, Rima Nabbout, Arvid Suls, Peter De Jonghe, Federico Zara, Renzo Guerrin. The genetics of Dravet syndrome. Epilepsia. vol 52 Suppl 2. 2011-04-29. PMID:21463275. |
dravet syndrome (ds), otherwise known as severe myoclonic epilepsy of infancy (smei), is an epileptic encephalopathy presenting in the first year of life. |
2011-04-29 |
2023-08-12 |
Not clear |
| Catherine Chiron, Olivier Dula. The pharmacologic treatment of Dravet syndrome. Epilepsia. vol 52 Suppl 2. 2011-04-29. PMID:21463285. |
dravet syndrome (ds) is one of the most pharmacoresistant epilepsy syndromes. |
2011-04-29 |
2023-08-12 |
Not clear |