| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Dongli Zhang, Xiaoming Liu, Xingqiang Den. Genetic basis of pediatric epilepsy syndromes. Experimental and therapeutic medicine. vol 13. issue 5. 2020-09-29. PMID:28565819. |
nearly 300 mutations of scn1a gene coding for the nav1.1 channel protein have been identified that contribute to the pathology of epilepsy. |
2020-09-29 |
2023-08-13 |
Not clear |
| Yuichi Kimura, Yasuyoshi Tanaka, Naoto Shirasu, Shin'ichiro Yasunaga, Norimichi Higurashi, Shinichi Hiros. Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome. Stem cell research. vol 47. 2020-08-31. PMID:32599563. |
dravet syndrome is known as an intractable infantile epilepsy caused by a heterozygous de novo mutation in scn1a, with mutations being reported globally. |
2020-08-31 |
2023-08-13 |
human |
| Jens Schuster, Loora Laan, Joakim Klar, Zhe Jin, Mikael Huss, Sergiy Korol, Feria Hikmet Noraddin, Maria Sobol, Bryndis Birnir, Niklas Dah. Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment. Neurobiology of disease. vol 132. 2020-08-06. PMID:31445158. |
dravet syndrome (ds) is an early onset refractory epilepsy typically caused by de novo heterozygous variants in scn1a encoding the α-subunit of the neuronal sodium channel na |
2020-08-06 |
2023-08-13 |
Not clear |
| Elisa Musto, Elena Gardella, Rikke S Mølle. Recent advances in treatment of epilepsy-related sodium channelopathies. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 24. 2020-07-22. PMID:31889633. |
pathogenic variants in the five human brain expressed vgsc genes, scn1a, scn2a, scn3a, scn8a and scn1b have been associated with a spectrum of epilepsy phenotypes and neurodevelopmental disorders. |
2020-07-22 |
2023-08-13 |
human |
| Gregory Costain, Dawn Cordeiro, Diana Matviychuk, Saadet Mercimek-Andrew. Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy. Neuroscience. vol 418. 2020-07-14. PMID:31487502. |
additionally, there might be some treatment implications in 30% of patients with genetic diagnoses including scn1a, scn2a, scn8a, and kcnq2 associated epilepsies by application of effective anti-epileptic drugs or the ketogenic diet therapy. |
2020-07-14 |
2023-08-13 |
Not clear |
| Li Yang, Jing Liu, Quanping Su, Yufen Li, Xiaofan Yang, Liyun Xu, Lili Tong, Baomin L. Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy. Brain and behavior. vol 9. issue 12. 2020-06-16. PMID:31714027. |
pcdh19 has become the second most relevant gene in epilepsy after scn1a. |
2020-06-16 |
2023-08-13 |
Not clear |
| Iris M de Lange, Wout Weuring, Ruben van 't Slot, Boudewijn Gunning, Anja C M Sonsma, Mark McCormack, Carolien de Kovel, Lisette J J M van Gemert, Flip Mulder, Marjan J A van Kempen, Nine V A M Knoers, Eva H Brilstra, Bobby P C Koelema. Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes. Molecular genetics & genomic medicine. vol 7. issue 7. 2020-06-11. PMID:31144463. |
pathogenic variants in scn1a cause variable epilepsy disorders with different disease severities. |
2020-06-11 |
2023-08-13 |
Not clear |
| Joseph D Symonds, Sameer M Zuberi, Kirsty Stewart, Ailsa McLellan, Mary O'Regan, Stewart MacLeod, Alice Jollands, Shelagh Joss, Martin Kirkpatrick, Andreas Brunklaus, Daniela T Pilz, Jay Shetty, Liam Dorris, Ishaq Abu-Arafeh, Jamie Andrew, Philip Brink, Mary Callaghan, Jamie Cruden, Louise A Diver, Christine Findlay, Sarah Gardiner, Rosemary Grattan, Bethan Lang, Jane MacDonnell, Jean McKnight, Calum A Morrison, Lesley Nairn, Meghan M Slean, Elma Stephen, Alan Webb, Angela Vincent, Margaret Wilso. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain : a journal of neurology. vol 142. issue 8. 2020-05-26. PMID:31302675. |
prrt2 was the most common single-gene epilepsy with an incidence of 1 per 9970 live births (10.0/100 000; 95% confidence interval 5.26-14.8) followed by scn1a: 1 per 12 200 (8.26/100 000; 95% confidence interval 3.93-12.6); kcnq2: 1 per 17 000 (5.89/100 000; 95% confidence interval 2.24-9.56) and slc2a1: 1 per 24 300 (4.13/100 000; 95% confidence interval 1.07-7.19). |
2020-05-26 |
2023-08-13 |
human |
| Paul J Dunn, Bridget H Maher, Cassie L Albury, Shani Stuart, Heidi G Sutherland, Neven Maksemous, Miles C Benton, Robert A Smith, Larisa M Haupt, Lyn R Griffith. Tiered analysis of whole-exome sequencing for epilepsy diagnosis. Molecular genetics and genomics : MGG. vol 295. issue 3. 2020-05-21. PMID:32146541. |
wes was completed on 14 dna samples (2 with known mutations in scn1a and 12 with no known mutations) from individuals diagnosed with epilepsy using an ion ampliseq approach. |
2020-05-21 |
2023-08-13 |
Not clear |
| Jens Schuster, Ambrin Fatima, Maria Sobol, Feria Hikmet Norradin, Loora Laan, Niklas Dah. Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations. Stem cell research. vol 39. 2020-04-27. PMID:31400703. |
dravet syndrome (ds) is a childhood epilepsy syndrome caused by heterozygous mutations in the scn1a gene encoding voltage-gated sodium channel na |
2020-04-27 |
2023-08-13 |
human |
| Ingrid E Scheffer, Rima Nabbou. SCN1A-related phenotypes: Epilepsy and beyond. Epilepsia. vol 60 Suppl 3. 2020-04-23. PMID:31904117. |
scn1a, encoding the alpha 1 subunit of the sodium channel, is associated with several epilepsy syndromes and a range of other diseases. |
2020-04-23 |
2023-08-13 |
Not clear |
| Ingrid E Scheffer, Rima Nabbou. SCN1A-related phenotypes: Epilepsy and beyond. Epilepsia. vol 60 Suppl 3. 2020-04-23. PMID:31904117. |
scn1a represents the archetypal channelopathy associated with a wide phenotypic spectrum of epilepsies ranging from genetic epilepsy with febrile seizures plus (gefs+), to developmental and epileptic encephalopathies (dees). |
2020-04-23 |
2023-08-13 |
Not clear |
| Davide Mei, Valentina Cetica, Carla Marini, Renzo Guerrin. Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies. Epilepsia. vol 60 Suppl 3. 2020-04-23. PMID:31904125. |
however, because the syndrome spectrum is wide, fragments of it can at times also be manifested in other genetic epilepsy syndromes, thereby leading to overdiagnosis of dravet syndrome beyond scn1a. |
2020-04-23 |
2023-08-13 |
human |
| Lindsey Shapiro, Jennifer C Wong, Andrew Escay. Reduced cannabinoid 2 receptor activity increases susceptibility to induced seizures in mice. Epilepsia. vol 60. issue 12. 2020-04-15. PMID:31758544. |
recent evidence suggests that the ecs may be a promising target for the treatment of epilepsy, including epilepsy subtypes that arise from mutations in the voltage-gated sodium channel scn1a. |
2020-04-15 |
2023-08-13 |
mouse |
| Ivana Markovic, Natasa Pejanovic-Skobic, Nada Bozina, Ivana Susak Sporis, Davor Sporis, Silvio Basi. The lack of influence of IVS5-91 G>A polymorphism of the SCN1A gene on efficacy of lamotrigine in patients with focal epilepsy. Neurological research. vol 41. issue 10. 2020-03-23. PMID:31256750. |
the lack of influence of ivs5-91 g>a polymorphism of the scn1a gene on efficacy of lamotrigine in patients with focal epilepsy. |
2020-03-23 |
2023-08-13 |
Not clear |
| Maryem Sahli, Abdelali Zrhidri, Siham Chafai Elaloui, Wiam Smaili, Jaber Lyahyai, Fatima Zohra Oudghiri, Abdelaziz Sefian. Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series. Journal of medical case reports. vol 13. issue 1. 2020-02-03. PMID:31439038. |
clinical exome sequencing identifies two novel mutations of the scn1a and scn2a genes in moroccan patients with epilepsy: a case series. |
2020-02-03 |
2023-08-13 |
Not clear |
| Ana Rita Salgueiro-Pereira, Fabrice Duprat, Paula A Pousinha, Alexandre Loucif, Vincent Douchamps, Cristina Regondi, Marion Ayrault, Martine Eugie, Marion I Stunault, Andrew Escayg, Romain Goutagny, Vadym Gnatkovsky, Carolina Frassoni, Hélène Marie, Ingrid Bethus, Massimo Mantegazz. A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies. Neurobiology of disease. vol 125. 2019-12-16. PMID:30659983. |
a two-hit story: seizures and genetic mutation interaction sets phenotype severity in scn1a epilepsies. |
2019-12-16 |
2023-08-13 |
Not clear |
| Zhi-Xu Fang, Si-Qi Hong, Ting-Song Li, Juan Wang, Ling-Ling Xie, Wei Han, Li Jian. Genetic and phenotypic characteristics of SCN1A-related epilepsy in Chinese children. Neuroreport. vol 30. issue 9. 2019-12-16. PMID:31009440. |
scn1a gene mutations are associated with epilepsy and neurodevelopmental disorders. |
2019-12-16 |
2023-08-13 |
Not clear |
| Zhi-Xu Fang, Si-Qi Hong, Ting-Song Li, Juan Wang, Ling-Ling Xie, Wei Han, Li Jian. Genetic and phenotypic characteristics of SCN1A-related epilepsy in Chinese children. Neuroreport. vol 30. issue 9. 2019-12-16. PMID:31009440. |
this study aimed to explore the genotype and phenotype spectrum of scn1a gene related epilepsy. |
2019-12-16 |
2023-08-13 |
Not clear |
| Zhi-Xu Fang, Si-Qi Hong, Ting-Song Li, Juan Wang, Ling-Ling Xie, Wei Han, Li Jian. Genetic and phenotypic characteristics of SCN1A-related epilepsy in Chinese children. Neuroreport. vol 30. issue 9. 2019-12-16. PMID:31009440. |
early diagnosis of scn1a mutation-associated epilepsy can aid in appropriate choice of antiepileptic drugs for treatment and reducing adverse sequelae. |
2019-12-16 |
2023-08-13 |
Not clear |