| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Joan V Skluzacek, Kathryn P Watts, Olivier Parsy, Beverly Wical, Peter Camfiel. Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. Epilepsia. vol 52 Suppl 2. 2011-04-29. PMID:21463290. |
the international dravet syndrome epilepsy action league (idea league) is a partnership of parents and professionals united in the purpose of creating greater awareness and understanding of ds. |
2011-04-29 |
2023-08-12 |
Not clear |
| Mark A Ferro, William R Avison, M Karen Campbell, Kathy N Speechle. The impact of maternal depressive symptoms on health-related quality of life in children with epilepsy: a prospective study of family environment as mediators and moderators. Epilepsia. vol 52. issue 2. 2011-04-01. PMID:21054352. |
to examine the impact of maternal depressive symptoms (ds) on health-related quality of life (hrql) in children with new-onset epilepsy and to identify family factors that moderate and mediate this relationship during the first 24 months after epilepsy diagnosis. |
2011-04-01 |
2023-08-12 |
Not clear |
| Mark A Ferro, William R Avison, M Karen Campbell, Kathy N Speechle. Prevalence and trajectories of depressive symptoms in mothers of children with newly diagnosed epilepsy. Epilepsia. vol 52. issue 2. 2011-04-01. PMID:21204823. |
to examine the prevalence, trajectories, and predictors of depressive symptoms (ds) in mothers of children with new-onset epilepsy. |
2011-04-01 |
2023-08-12 |
Not clear |
| Patricia A Lordeon, Bilal Sitwat, Donna Brehm, Deborah Holde. Dravet syndrome: a technologist's perspective. American journal of electroneurodiagnostic technology. vol 50. issue 4. 2011-03-10. PMID:21313790. |
dravet syndrome (ds), also known as severe myoclonic epilepsy in infancy (smei) is a rare, primarily genetic disorder which develops in infancy. |
2011-03-10 |
2023-08-12 |
Not clear |
| Roberto De Simone, Xavier Salas Puig, Philippe Gélisse, Arielle Crespel, Pierre Gento. Senile myoclonic epilepsy: delineation of a common condition associated with Alzheimer's disease in Down syndrome. Seizure. vol 19. issue 7. 2010-12-02. PMID:20598585. |
in down syndrome (ds), epilepsy is frequent in all age classes and is recognized as a significant cause of additional handicap and morbidity. |
2010-12-02 |
2023-08-12 |
human |
| Roberto De Simone, Xavier Salas Puig, Philippe Gélisse, Arielle Crespel, Pierre Gento. Senile myoclonic epilepsy: delineation of a common condition associated with Alzheimer's disease in Down syndrome. Seizure. vol 19. issue 7. 2010-12-02. PMID:20598585. |
following preliminary description of myoclonic seizures and/or myoclonic epilepsy in isolated cases or small series, we wish to report the diagnostic criteria, treatment and prognosis of a specific and recognizable form of epilepsy associated with ad in a larger group of middle-aged to elderly ds patients. |
2010-12-02 |
2023-08-12 |
human |
| Roberto De Simone, Xavier Salas Puig, Philippe Gélisse, Arielle Crespel, Pierre Gento. Senile myoclonic epilepsy: delineation of a common condition associated with Alzheimer's disease in Down syndrome. Seizure. vol 19. issue 7. 2010-12-02. PMID:20598585. |
we reviewed all medical records of patients with ds referred to our centers (centre saint paul-gastaut, marseille; epilepsy unit, montpellier university hospital; department of neurology, hospital general de asturias, oviedo) since 1995. |
2010-12-02 |
2023-08-12 |
human |
| 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 |
| Andrew Escayg, Alan L Goldi. Sodium channel SCN1A and epilepsy: mutations and mechanisms. Epilepsia. vol 51. issue 9. 2010-10-15. PMID:20831750. |
mutations in a number of genes encoding voltage-gated sodium channels cause a variety of epilepsy syndromes in humans, including genetic (generalized) epilepsy with febrile seizures plus (gefs+) and dravet syndrome (ds, severe myoclonic epilepsy of infancy). |
2010-10-15 |
2023-08-12 |
mouse |
| 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 |
| Robert L Macdonald, Jing-Qiong Kang, Martin J Gallaghe. Mutations in GABAA receptor subunits associated with genetic epilepsies. The Journal of physiology. vol 588. issue Pt 11. 2010-08-27. PMID:20308251. |
mutations in inhibitory gabaa receptor subunit genes (gabra1, gabrb3, gabrg2 and gabrd) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (cae), juvenile myoclonic epilepsy (jme), pure febrile seizures (fs), generalized epilepsy with febrile seizures plus (gefs+), and dravet syndrome (ds)/severe myoclonic epilepsy in infancy (smei). |
2010-08-27 |
2023-08-12 |
Not clear |
| D Pérez-Cremades, S Hernández, J M Blasco-Ibáñez, C Crespo, J Nacher, E Vare. Alteration of inhibitory circuits in the somatosensory cortex of Ts65Dn mice, a model for Down's syndrome. Journal of neural transmission (Vienna, Austria : 1996). vol 117. issue 4. 2010-06-21. PMID:20157742. |
since there is a propensity for epilepsy in ds patients, this increase in interneurons might reflect an attempt by the system to block overexcitation rather than an increment in total inhibition and could explain the deficit in interneurons and principal cells observed in elderly ds patients. |
2010-06-21 |
2023-08-12 |
mouse |
| Rima Nabbout, Christel Depienne, Mathilde Chipaux, Benoit Girard, Isabelle Souville, Oriane Trouillard, Olivier Dulac, Jamel Chelly, Alexandra Afenjar, Delphine Héron, Eric Leguern, Cherif Beldjord, Thierry Bienvenu, Nadia Bahi-Buisso. CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. Epilepsy research. vol 87. issue 1. 2010-01-05. PMID:19734009. |
severe myoclonic epilepsy of infancy (smei) or dravet syndrome (ds) is a distinctive epilepsy syndrome often associated with de novo mutations in the scn1a gene. |
2010-01-05 |
2023-08-12 |
Not clear |
| John J Millichap, Sookyong Koh, Linda C Laux, Douglas R Nordl. Child Neurology: Dravet syndrome: when to suspect the diagnosis. Neurology. vol 73. issue 13. 2009-10-21. PMID:19786689. |
dravet syndrome (ds), previously known as severe myoclonic epilepsy in infancy (smei), is an epileptic encephalopathy that presents with prolonged seizures in the first year of life. |
2009-10-21 |
2023-08-12 |
Not clear |
| Antonia M W Coppus, Heleen M Evenhuis, Gert-Jan Verberne, Frank E Visser, Ben A Oostra, Piet Eikelenboom, Willem A van Gool, A Cecile J W Janssens, Cornelia M van Duij. Survival in elderly persons with Down syndrome. Journal of the American Geriatrics Society. vol 56. issue 12. 2009-01-22. PMID:19093931. |
clinically, the most important disorders in persons with ds that are related to mortality are dementia, mobility restrictions, visual impairment, and epilepsy but not cardiovascular diseases. |
2009-01-22 |
2023-08-12 |
Not clear |