| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Roberto De Simone, Géraldine Daquin, Pierre Gento. Senile myoclonic epilepsy in Down syndrome: a video and EEG presentation of two cases. Epileptic disorders : international epilepsy journal with videotape. vol 8. issue 3. 2006-12-06. PMID:16987746. |
at onset, myoclonic epilepsy in elderly ds patients may resemble, in its clinical expression, the classical juvenile myoclonic epilepsy with the characteristic occurrence of jerks on awakening. |
2006-12-06 |
2023-08-12 |
Not clear |
| L H Goldstein, J D C Meller. Ictal symptoms of anxiety, avoidance behaviour, and dissociation in patients with dissociative seizures. Journal of neurology, neurosurgery, and psychiatry. vol 77. issue 5. 2006-05-30. PMID:16614021. |
to examine anxiety related seizure symptoms and avoidance behaviour in adults with dissociative (psychogenic non-epileptic) seizures (ds) in comparison with a group suffering from partial epilepsy. |
2006-05-30 |
2023-08-12 |
Not clear |
| Hirokazu Ogun. Symptomatic epilepsies imitating idiopathic generalized epilepsies. Epilepsia. vol 46 Suppl 9. 2005-12-09. PMID:16302880. |
the newly recognized metabolic disorder of glucose transporter type 1 deficiency syndrome (glut-1 ds) may start with myoclonic seizures at an age of less than 1 year and imitate benign myoclonic epilepsy in infancy early in the clinical course. |
2005-12-09 |
2023-08-12 |
Not clear |
| Yonatan Ganor, Hadassa Goldberg-Stern, Tally Lerman-Sagie, Vivian I Teichberg, Mia Levit. Autoimmune epilepsy: distinct subpopulations of epilepsy patients harbor serum autoantibodies to either glutamate/AMPA receptor GluR3, glutamate/NMDA receptor subunit NR2A or double-stranded DNA. Epilepsy research. vol 65. issue 1-2. 2005-10-19. PMID:15978777. |
we studied 82 patients with different types of epilepsy and 49 neurologically intact non-epileptic controls, and identified three different subpopulations of epilepsy patients bearing significantly elevated levels of autoantibodies to either glur3b-peptide of glutamate/ampa receptor subtype 3 (17/82; 21% of patients), or to a peptide of nr2a subunit of glutamate/nmda receptors (15/82; 18%), or to double-stranded (ds) dna, the hallmark of systemic lupus erythematosus (13/80; 16%). |
2005-10-19 |
2023-08-12 |
Not clear |
| Roberto Horacio Caraballo, Ricardo Oscar Cersósimo, Diego Sakr, Araceli Cresta, Nidia Escobal, Natalio Fejerma. Ketogenic diet in patients with Dravet syndrome. Epilepsia. vol 46. issue 9. 2005-10-19. PMID:16146451. |
severe myoclonic epilepsy in infants or dravet syndrome (ds) is one of the most malignant epileptic syndromes. |
2005-10-19 |
2023-08-12 |
Not clear |
| Manuel Menénde. Down syndrome, Alzheimer's disease and seizures. Brain & development. vol 27. issue 4. 2005-06-28. PMID:15862185. |
late-onset epilepsy in ds is associated with ad, while early-onset epilepsy is associated with an absence of dementia. |
2005-06-28 |
2023-08-12 |
Not clear |
| Manuel Menénde. Down syndrome, Alzheimer's disease and seizures. Brain & development. vol 27. issue 4. 2005-06-28. PMID:15862185. |
ds adults with epilepsy score significantly higher overall on the adaptive behaviour profile. |
2005-06-28 |
2023-08-12 |
Not clear |
| J C Möller, H M Hamer, W H Oertel, F Roseno. Late-onset myoclonic epilepsy in Down's syndrome (LOMEDS). Seizure. vol 11 Suppl A. 2002-11-29. PMID:12185765. |
descriptions of late-onset epilepsy in ds patients are rare. |
2002-11-29 |
2023-08-12 |
Not clear |
| J C Möller, H M Hamer, W H Oertel, F Roseno. Late-onset myoclonic epilepsy in Down's syndrome (LOMEDS). Seizure. vol 11 Suppl A. 2002-11-29. PMID:12185765. |
however, a review of the pertinent literature revealed at least two other cases of elderly ds patients developing progressive myoclonic epilepsy after the onset of dementia. |
2002-11-29 |
2023-08-12 |
Not clear |