| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Kinga Duszyc, Iwona Terczynska, Dorota Hoffman-Zacharsk. Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance. Journal of applied genetics. vol 56. issue 1. 2015-06-01. PMID:25204757. |
epilepsy in females with mental retardation (efmr) is a rare early infantile epileptic encephalopathy (eiee), phenotypically resembling dravet syndrome (ds). |
2015-06-01 |
2023-08-13 |
Not clear |
| Christopher D Makinson, Brian S Tanaka, Tyra Lamar, Alan L Goldin, Andrew Escay. Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance. Neurobiology of disease. vol 68. 2015-05-11. PMID:24704313. |
scn1a mutations are the main cause of the epilepsy disorders dravet syndrome (ds) and genetic epilepsy with febrile seizures plus (gefs+). |
2015-05-11 |
2023-08-13 |
mouse |
| Diana Barca, Oana Tarta-Arsene, Alice Dica, Catrinel Iliescu, Magdalena Budisteanu, Cristina Motoescu, Niculina Butoianu, Dana Crai. Intellectual disability and epilepsy in down syndrome. Maedica. vol 9. issue 4. 2015-02-23. PMID:25705303. |
down syndrome (ds) is the most common genetic cause of mental retardation, with a reported frequency of epilepsy between 1.4-17% (1). |
2015-02-23 |
2023-08-13 |
Not clear |
| Ryota Inokuchi, Kensuke Nakamura, Naoaki Mizuno, Hajime Sato, Kazuaki Shinohara, Takehiro Matsubara, Kent Doi, Takeshi Ishii, Masataka Gunshin, Susumu Nakajima, Naoki Yahag. Adult-onset seizures in a patient with Down syndrome and portosystemic shunt. Brain & development. vol 36. issue 7. 2015-02-20. PMID:24035599. |
the prevalence of epilepsy in patients with down syndrome (ds) is 5-13%, which is higher than the prevalence in the general population. |
2015-02-20 |
2023-08-12 |
Not clear |
| Ryota Inokuchi, Kensuke Nakamura, Naoaki Mizuno, Hajime Sato, Kazuaki Shinohara, Takehiro Matsubara, Kent Doi, Takeshi Ishii, Masataka Gunshin, Susumu Nakajima, Naoki Yahag. Adult-onset seizures in a patient with Down syndrome and portosystemic shunt. Brain & development. vol 36. issue 7. 2015-02-20. PMID:24035599. |
here, we describe the case a 37-year-old woman who had ds and a history of adult-onset epilepsy and was admitted to our hospital with recurrent seizures. |
2015-02-20 |
2023-08-12 |
Not clear |
| Adam Strzelczyk, Susanne Schubert-Bast, Jens P Reese, Felix Rosenow, Ulrich Stephani, Rainer Boo. Evaluation of health-care utilization in patients with Dravet syndrome and on adjunctive treatment with stiripentol and clobazam. Epilepsy & behavior : E&B. vol 34. 2014-12-16. PMID:24727467. |
dravet syndrome (ds) is a rare, severe childhood epilepsy syndrome that imposes a substantial burden on patients and their caregivers. |
2014-12-16 |
2023-08-13 |
Not clear |
| Adam Strzelczyk, Susanne Schubert-Bast, Jens P Reese, Felix Rosenow, Ulrich Stephani, Rainer Boo. Evaluation of health-care utilization in patients with Dravet syndrome and on adjunctive treatment with stiripentol and clobazam. Epilepsy & behavior : E&B. vol 34. 2014-12-16. PMID:24727467. |
this study evaluated health-care utilization over a 2-year period in patients with ds at an outpatient clinic of a german epilepsy center. |
2014-12-16 |
2023-08-13 |
Not clear |
| Adam Strzelczyk, Susanne Schubert-Bast, Jens P Reese, Felix Rosenow, Ulrich Stephani, Rainer Boo. Evaluation of health-care utilization in patients with Dravet syndrome and on adjunctive treatment with stiripentol and clobazam. Epilepsy & behavior : E&B. vol 34. 2014-12-16. PMID:24727467. |
this study showed that direct costs of patients with ds were above the average european costs of drug-resistant epilepsy in children. |
2014-12-16 |
2023-08-13 |
Not clear |
| Christine S Cheah, Ruth E Westenbroek, William H Roden, Franck Kalume, John C Oakley, Laura A Jansen, William A Catteral. Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome. Channels (Austin, Tex.). vol 7. issue 6. 2014-12-03. PMID:23965409. |
dravet syndrome (ds) is an intractable genetic epilepsy caused by loss-of-function mutations in scn1a, the gene encoding brain sodium channel nav 1.1. |
2014-12-03 |
2023-08-12 |
mouse |
| Rima Nabbout, Nicole Chemaly, Mathilde Chipaux, Giulia Barcia, Charles Bouis, Celia Dubouch, Dorothee Leunen, Isabelle Jambaqué, Olivier Dulac, Georges Dellatolas, Catherine Chiro. Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy. Orphanet journal of rare diseases. vol 8. 2014-07-17. PMID:24225340. |
dravet syndrome (ds) is currently considered as an epileptic encephalopathy, a condition in which epilepsy causes deterioration or developmental delay but preliminary data suggested that cognitive course may worsen independently from epilepsy. |
2014-07-17 |
2023-08-12 |
Not clear |
| Rima Nabbout, Nicole Chemaly, Mathilde Chipaux, Giulia Barcia, Charles Bouis, Celia Dubouch, Dorothee Leunen, Isabelle Jambaqué, Olivier Dulac, Georges Dellatolas, Catherine Chiro. Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy. Orphanet journal of rare diseases. vol 8. 2014-07-17. PMID:24225340. |
our objective was to prospectively analyze the neuropsychological features in a large cohort of ds patients and its relationships with epilepsy and scn1a mutation. |
2014-07-17 |
2023-08-12 |
Not clear |
| 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 |