| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Marina Trivisano, Nicola Pietrafusa, Vincenzo di Ciommo, Simona Cappelletti, Luca de Palma, Alessandra Terracciano, Enrico Bertini, Federico Vigevano, Nicola Specchi. PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity. Epilepsy research. vol 125. 2017-12-18. PMID:27371789. |
we retrospectively reviewed the medical records of 15 patients with pcdh19-related epilepsy and 19 with ds. |
2017-12-18 |
2023-08-13 |
Not clear |
| Marina Trivisano, Nicola Pietrafusa, Vincenzo di Ciommo, Simona Cappelletti, Luca de Palma, Alessandra Terracciano, Enrico Bertini, Federico Vigevano, Nicola Specchi. PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity. Epilepsy research. vol 125. 2017-12-18. PMID:27371789. |
epilepsy onset was earlier in ds (5.0+2.1 vs 11.2+7.0months; p<0.05). |
2017-12-18 |
2023-08-13 |
Not clear |
| Marina Trivisano, Nicola Pietrafusa, Vincenzo di Ciommo, Simona Cappelletti, Luca de Palma, Alessandra Terracciano, Enrico Bertini, Federico Vigevano, Nicola Specchi. PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity. Epilepsy research. vol 125. 2017-12-18. PMID:27371789. |
the second seizure/cluster occurred after a longer latency in pcdh19-related epilepsy rather than in ds (10.1±13.6 vs 2.2±2.1months; p<0.05). |
2017-12-18 |
2023-08-13 |
Not clear |
| Marina Trivisano, Nicola Pietrafusa, Vincenzo di Ciommo, Simona Cappelletti, Luca de Palma, Alessandra Terracciano, Enrico Bertini, Federico Vigevano, Nicola Specchi. PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity. Epilepsy research. vol 125. 2017-12-18. PMID:27371789. |
seizures were mainly single and prolonged seizures in ds, and brief and clustered in pcdh19-related epilepsy. |
2017-12-18 |
2023-08-13 |
Not clear |
| Marina Trivisano, Nicola Pietrafusa, Vincenzo di Ciommo, Simona Cappelletti, Luca de Palma, Alessandra Terracciano, Enrico Bertini, Federico Vigevano, Nicola Specchi. PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity. Epilepsy research. vol 125. 2017-12-18. PMID:27371789. |
other types of seizures were found in both epilepsies with a prevalence of gtcs and atypical absences in ds, and focal motor and hypomotor seizures in pcdh19-related epilepsy. |
2017-12-18 |
2023-08-13 |
Not clear |
| Geqing Xia, Sarah P Pourali, Timothy A Warner, Chun-Qing Zhang, Robert L Macdonald, Jing-Qiong Kan. Altered GABAA receptor expression in brainstem nuclei and SUDEP in Gabrg2(+/Q390X) mice associated with epileptic encephalopathy. Epilepsy research. vol 123. 2017-12-15. PMID:27131289. |
gabrg2(q390x) is a mutation associated with the epileptic encephalopathy dravet syndrome (ds) and with genetic epilepsy with febrile seizures plus (gefs+) in patients. |
2017-12-15 |
2023-08-13 |
mouse |
| Dora Steel, Joseph D Symonds, Sameer M Zuberi, Andreas Brunklau. Dravet syndrome and its mimics: Beyond SCN1A. Epilepsia. vol 58. issue 11. 2017-11-09. PMID:28880996. |
dravet syndrome (ds) is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving to drug-resistant epilepsy with accompanying cognitive, behavioral, and motor impairment. |
2017-11-09 |
2023-08-13 |
Not clear |
| Michael F Hammer, Atsushi Ishii, Laurel Johnstone, Alexander Tchourbanov, Branden Lau, Ryan Sprissler, Brian Hallmark, Miao Zhang, Jin Zhou, Joseph Watkins, Shinichi Hiros. Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome. PloS one. vol 12. issue 7. 2017-10-06. PMID:28686619. |
dravet syndrome (ds) is a rare, devastating form of childhood epilepsy that is often associated with mutations in the voltage-gated sodium channel gene, scn1a. |
2017-10-06 |
2023-08-13 |
Not clear |
| R E Jiménez-Arredondo, A J L Brambila-Tapia, F M Mercado-Silva, M T Magaña-Torres, L E Figuer. Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome. Genetics and molecular research : GMR. vol 16. issue 2. 2017-09-28. PMID:28525652. |
therefore, the objective of this study was to determine the frequency of scn1a mutations (in the exon 26) in a cohort of mexican patients with ds and refractory epilepsy (re). |
2017-09-28 |
2023-08-13 |
Not clear |
| Taha Gholipour, Sara Mitchell, Rani A Sarkis, Zeina Chemal. The clinical and neurobehavioral course of Down syndrome and dementia with or without new-onset epilepsy. Epilepsy & behavior : E&B. vol 68. 2017-08-09. PMID:28109983. |
adult patients with down syndrome (ds) are at higher risk of developing alzheimer-type dementia and epilepsy. |
2017-08-09 |
2023-08-13 |
Not clear |
| Brian J Dlouhy, Brandon Miller, Anna Jeong, Mary E Bertrand, David D Limbrick, Matthew D Smyt. Palliative epilepsy surgery in Dravet syndrome-case series and review of the literature. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. vol 32. issue 9. 2017-07-13. PMID:27465677. |
dravet syndrome (ds), also known as severe myoclonic epilepsy of infancy (smei), is a rare genetic disorder that results in severe childhood-onset epilepsy. |
2017-07-13 |
2023-08-13 |
Not clear |
| Rushna Ali, Mona Elsayed, Manpreet Kaur, Ellen Air, Naznin Mahmood, Jules Constantinou, Jason Schwal. Use of social media to assess the effectiveness of vagal nerve stimulation in Dravet syndrome: A caregiver's perspective. Journal of the neurological sciences. vol 375. 2017-07-03. PMID:28320117. |
dravet syndrome (ds) is a rare genetic epilepsy syndrome which is particularly pharmacoresistant. |
2017-07-03 |
2023-08-13 |
Not clear |
| Kenneth A Myers, Rosemary Burgess, Zaid Afawi, John A Damiano, Samuel F Berkovic, Michael S Hildebrand, Ingrid E Scheffe. De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome. Epilepsia. vol 58. issue 2. 2017-06-27. PMID:28084635. |
genetic epilepsy with febrile seizures plus (gefs+) is a familial epilepsy syndrome characterized by heterogeneous phenotypes ranging from mild disorders such as febrile seizures to epileptic encephalopathies (ees) such as dravet syndrome (ds). |
2017-06-27 |
2023-08-13 |
Not clear |
| Berten Ceulemans, An-Sofie Schoonjans, Fabienne Marchau, Bernard P Paelinck, Lieven Laga. Five-year extended follow-up status of 10 patients with Dravet syndrome treated with fenfluramine. Epilepsia. vol 57. issue 7. 2017-06-16. PMID:27197941. |
dravet syndrome (ds) is a rare and therapy-resistant epilepsy syndrome. |
2017-06-16 |
2023-08-13 |
Not clear |
| A Liu, X Xu, X Yang, Y Jiang, Z Yang, X Liu, Y Wu, X Wu, L Wei, Y Zhan. The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. Clinical genetics. vol 91. issue 1. 2017-06-13. PMID:27527380. |
we identified 11 novel and 7 reported mutations in 21 of 104 probands (20.2%), including 6 (6/75, 8%) ds girls and 15 (15/29, 51.7%) girls with fever-sensitive epilepsy. |
2017-06-13 |
2023-08-13 |
Not clear |
| A Liu, X Xu, X Yang, Y Jiang, Z Yang, X Liu, Y Wu, X Wu, L Wei, Y Zhan. The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. Clinical genetics. vol 91. issue 1. 2017-06-13. PMID:27527380. |
our results confirmed that the clinical spectrum of pcdh19 mutations includes female ds patients, epilepsy and mental retardation limited to females, epilepsy with normal development and asymptomatic female carriers. |
2017-06-13 |
2023-08-13 |
Not clear |
| Helen Dirrig, Christopher R Lam. MAGNETIC RESONANCE IMAGING OF INTRACRANIAL INFLAMMATORY CONDITIONS IN DOGS: SENSITIVITY OF SUBTRACTION IMAGES VERSUS PRE- AND POST-GADOLINIUM T1-WEIGHTED IMAGE PAIRS. Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association. vol 57. issue 4. 2017-06-06. PMID:27144775. |
sensitivity of pre- and post-gadolinium (c-/c+) image pairs and dynamic subtraction (ds) images was compared in a retrospective diagnostic accuracy study of 52 dogs with inflammatory cerebrospinal fluid and 67 dogs with idiopathic epilepsy. |
2017-06-06 |
2023-08-13 |
Not clear |
| Helen Dirrig, Christopher R Lam. MAGNETIC RESONANCE IMAGING OF INTRACRANIAL INFLAMMATORY CONDITIONS IN DOGS: SENSITIVITY OF SUBTRACTION IMAGES VERSUS PRE- AND POST-GADOLINIUM T1-WEIGHTED IMAGE PAIRS. Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association. vol 57. issue 4. 2017-06-06. PMID:27144775. |
eight (12%) dogs with epilepsy had evidence of intra-axial gadolinium accumulation affecting the cerebral cortex in ds images. |
2017-06-06 |
2023-08-13 |
Not clear |
| Hiroshi Maeda, Tomohiro Chiyonobu, Michiko Yoshida, Satoshi Yamashita, Masashi Zuiki, Satoshi Kidowaki, Kenichi Isoda, Kazuhiro Yamakawa, Masafumi Morimoto, Tatsutoshi Nakahata, Megumu K Saito, Hajime Hoso. Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome. Journal of human genetics. vol 61. issue 6. 2017-04-06. PMID:26841829. |
dravet syndrome (ds) is a severe childhood epilepsy typically caused by de novo dominant mutations in scn1a. |
2017-04-06 |
2023-08-13 |
Not clear |
| Ahmed H Subki, Aishah S Alasmari, Fadi M Jan, Feras A Moria, Mohammed M Ja. Reflex Seizures Triggered by Diaper Change in Dravet Syndrome. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. vol 43. issue 4. 2017-02-17. PMID:26889571. |
dravet syndrome (ds) is a severe epilepsy syndrome characterized by early onset of multiple types of seizures. |
2017-02-17 |
2023-08-13 |
Not clear |