| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Rui Ma, Yiran Duan, Liping Zhang, Xiaohong Qi, Lu Zhang, Sipei Pan, Lehong Gao, Chaodong Wang, Yuping Wan. Frontiers in molecular neuroscience. vol 15. 2022-06-06. PMID:35663268. |
to expand the genotypes and phenotypes of sodium voltage-gated channel alpha subunit 1 (scn1a)-related epilepsy. |
2022-06-06 |
2023-08-14 |
Not clear |
| Michael F Hammer, Yanling Pan, Medhane Cumbay, Manuela Pendziwiat, Zaid Afawi, Hadassah Goldberg-Stern, Laurel Johnstone, Ingo Helbig, Theodore R Cummin. Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with Genetic Epilepsy and Febrile Seizures Plus (GEFS+). Epilepsia. 2022-05-20. PMID:35592948. |
whole exome sequencing and co-expression analysis identify an scn1a variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus (gefs+). |
2022-05-20 |
2023-08-13 |
Not clear |
| Michael F Hammer, Yanling Pan, Medhane Cumbay, Manuela Pendziwiat, Zaid Afawi, Hadassah Goldberg-Stern, Laurel Johnstone, Ingo Helbig, Theodore R Cummin. Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with Genetic Epilepsy and Febrile Seizures Plus (GEFS+). Epilepsia. 2022-05-20. PMID:35592948. |
family members carrying the same scn1a variant often exhibit differences in the clinical severity of epilepsy. |
2022-05-20 |
2023-08-13 |
Not clear |
| Rogério R Gerbatin, Joana Augusto, Halima Boutouil, Cristina R Reschke, David C Henshal. Life-span characterization of epilepsy and comorbidities in Dravet syndrome mice carrying a targeted deletion of exon 1 of the Scn1a gene. Experimental neurology. 2022-04-29. PMID:35487274. |
life-span characterization of epilepsy and comorbidities in dravet syndrome mice carrying a targeted deletion of exon 1 of the scn1a gene. |
2022-04-29 |
2023-08-13 |
mouse |
| Rogério R Gerbatin, Joana Augusto, Halima Boutouil, Cristina R Reschke, David C Henshal. Life-span characterization of epilepsy and comorbidities in Dravet syndrome mice carrying a targeted deletion of exon 1 of the Scn1a gene. Experimental neurology. 2022-04-29. PMID:35487274. |
dravet syndrome (ds) is a catastrophic form of paediatric epilepsy associated with multiple comorbidities mainly caused by mutations in the scn1a gene. |
2022-04-29 |
2023-08-13 |
mouse |
| Rogério R Gerbatin, Joana Augusto, Halima Boutouil, Cristina R Reschke, David C Henshal. Life-span characterization of epilepsy and comorbidities in Dravet syndrome mice carrying a targeted deletion of exon 1 of the Scn1a gene. Experimental neurology. 2022-04-29. PMID:35487274. |
mice that are haploinsufficient for scn1a faithfully model each stage of ds, although various aspects have not been fully described, including the temporal appearance and sex differences of the epilepsy and comorbidities. |
2022-04-29 |
2023-08-13 |
mouse |
| Rogério R Gerbatin, Joana Augusto, Halima Boutouil, Cristina R Reschke, David C Henshal. Life-span characterization of epilepsy and comorbidities in Dravet syndrome mice carrying a targeted deletion of exon 1 of the Scn1a gene. Experimental neurology. 2022-04-29. PMID:35487274. |
the aim of the present study was to investigate the epilepsy landscape according to the progression of ds and the long-term co-morbidities in the scn1a(+/-) |
2022-04-29 |
2023-08-13 |
mouse |
| Seyedeh Farnaz Mousavi, Kazem Hasanpour, Milad Nazarzadeh, Abolfazl Adli, Malihe Sadat Bazghandi, Alireza Asadi, Abolfazl Rad, Omid Gholam. ABCG2, SCN1A and CYP3A5 genes polymorphism and drug-resistant epilepsy in children: A case-control study. Seizure. vol 97. 2022-03-26. PMID:35338956. |
abcg2, scn1a and cyp3a5 genes polymorphism and drug-resistant epilepsy in children: a case-control study. |
2022-03-26 |
2023-08-13 |
Not clear |
| Seyedeh Farnaz Mousavi, Kazem Hasanpour, Milad Nazarzadeh, Abolfazl Adli, Malihe Sadat Bazghandi, Alireza Asadi, Abolfazl Rad, Omid Gholam. ABCG2, SCN1A and CYP3A5 genes polymorphism and drug-resistant epilepsy in children: A case-control study. Seizure. vol 97. 2022-03-26. PMID:35338956. |
we sought to assess the association of cyp3a5 (rs776746), scn1a (rs2298771) and abcg2 (rs2231137) candidate polymorphisms with drug-resistant epilepsy among iranian children with epilepsy. |
2022-03-26 |
2023-08-13 |
Not clear |
| Jens Schuster, Claudia de Guidi, Rekha Tripathi, Joakim Klar, Niklas Dah. Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2. Stem cell research. vol 60. 2022-02-24. PMID:35203050. |
dravet syndrome is an early onset devastating epilepsy syndrome usually caused by heterozygous mutations in scn1a. |
2022-02-24 |
2023-08-13 |
human |
| Aqsa Ashfaq, Tayyaba Saleem, Nadeem Sheikh, Hafsa Maqboo. Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan. Genetics research. vol 2022. 2022-02-09. PMID:35136380. |
this case-control (100 control: 101patients) study evaluated the association of sodium channel genes scn1a and scn2a with drug-resistant epilepsy. |
2022-02-09 |
2023-08-13 |
Not clear |
| Line Skotte, João Fadista, Jonas Bybjerg-Grauholm, Vivek Appadurai, Michael S Hildebrand, Thomas F Hansen, Karina Banasik, Jakob Grove, Clara Albiñana, Frank Geller, Carmen F Bjurström, Bjarni J Vilhjálmsson, Matthew Coleman, John A Damiano, Rosemary Burgess, Ingrid E Scheffer, Ole Birger Vesterager Pedersen, Christian Erikstrup, David Westergaard, Kaspar René Nielsen, Erik Sørensen, Mie Topholm Bruun, Xueping Liu, Henrik Hjalgrim, Tune H Pers, Preben Bo Mortensen, Ole Mors, Merete Nordentoft, Julie W Dreier, Anders D Børglum, Jakob Christensen, David M Hougaard, Alfonso Buil, Anders Hviid, Mads Melbye, Henrik Ullum, Samuel F Berkovic, Thomas Werge, Bjarke Feenstr. Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes. Brain : a journal of neurology. 2022-01-13. PMID:35022648. |
gabrg2, scn1a and scn2a are well-established epilepsy genes and, overall, we found positive genetic correlations with epilepsies (rg = 0.39, p = 1.68 × 10-4). |
2022-01-13 |
2023-08-13 |
Not clear |
| Thi Tuyet Dieu Ngo, Rodney A Lea, Neven Maksemous, David A Eccles, Robert A Smith, Paul J Dunn, Van Cao Thao, Thi Minh Thi Ha, Chi Bao Bùi, Larisa M Haupt, Rodney Scott, Lyn R Griffith. The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients. Epilepsy research. vol 172. 2021-11-25. PMID:33721710. |
the minion as a cost-effective technology for diagnostic screening of the scn1a gene in epilepsy patients. |
2021-11-25 |
2023-08-13 |
Not clear |
| Lindsey Shapiro, Francesca Gado, Clementina Manera, Andrew Escay. Allosteric modulation of the cannabinoid 2 receptor confers seizure resistance in mice. Neuropharmacology. vol 188. 2021-11-19. PMID:33450277. |
ec21a increased resistance to induced seizures in cf1 wild-type mice and mice harboring the scn1a r1648h human epilepsy mutation. |
2021-11-19 |
2023-08-13 |
mouse |
| Megan S Crotts, YuJaung Kim, Eduardo Bravo, George B Richerson, Frida A Tera. A ketogenic diet protects DBA/1 and Scn1a Epilepsy & behavior : E&B. vol 124. 2021-11-15. PMID:34600281. |
a ketogenic diet protects dba/1 and scn1a patients with uncontrolled epilepsy have a high risk of sudden unexpected death in epilepsy (sudep). |
2021-11-15 |
2023-08-13 |
Not clear |
| Matheus Rocha Pereira Klettenberg, Victor Alves Rodrigues, Diógenes Diego de Carvalho Bispo, Paulo Emidio Lobão Cunha, Lisiane Seguti Ferreir. Nodular heterotopia: a rare finding in patients with epilepsy and SCN1A mutation. Arquivos de neuro-psiquiatria. vol 79. issue 10. 2021-11-08. PMID:34706024. |
nodular heterotopia: a rare finding in patients with epilepsy and scn1a mutation. |
2021-11-08 |
2023-08-13 |
Not clear |
| Jennifer C Wong, Lindsey Shapiro, Jacquelyn T Thelin, Elizabeth C Heaton, Rokon U Zaman, Martin J D'Souza, Kevin S Murnane, Andrew Escay. Nanoparticle encapsulated oxytocin increases resistance to induced seizures and restores social behavior in Scn1a-derived epilepsy. Neurobiology of disease. vol 147. 2021-11-01. PMID:33189882. |
de novo loss-of-function mutations in the voltage-gated sodium channel scn1a are the main cause of ds, while genetic epilepsy with febrile seizures plus (gefs+), also characterized by early-life fss and afebrile epilepsy, is typically caused by inherited mutations that alter the biophysical properties of scn1a. |
2021-11-01 |
2023-08-13 |
mouse |
| Wei Shan, Xiaoling Yang, Qian Ren, Qun Wan. Generation of SCN1A Knock out induced pluripotent stem cell (iPSC) line. Stem cell research. vol 55. 2021-10-26. PMID:34247112. |
the scn1a gene encodes the voltage-gated na+ channel alpha subunit nav1.1 and is the most clinically relevant epilepsy gene. |
2021-10-26 |
2023-08-13 |
human |
| Wei Shan, Xiaoling Yang, Qian Ren, Qun Wan. Generation of SCN1A Knock out induced pluripotent stem cell (iPSC) line. Stem cell research. vol 55. 2021-10-26. PMID:34247112. |
variants in scn1a result in a broad phenotypic spectrum of epilepsy syndromes, from mild genetic epilepsy with febrile seizures plus to severe dravet syndrome (ds). |
2021-10-26 |
2023-08-13 |
human |
| Chelsea D Pernici, Jeffrey A Mensah, E Jill Dahle, Kristina J Johnson, Laura Handy, Lauren Buxton, Misty D Smith, Peter J West, Cameron S Metcalf, Karen S Wilco. Development of an antiseizure drug screening platform for Dravet syndrome at the NINDS contract site for the Epilepsy Therapy Screening Program. Epilepsia. vol 62. issue 7. 2021-10-15. PMID:34002394. |
to facilitate the development of asds for ds, the contract site of the national institute of neurological disorders and stroke (ninds) epilepsy therapy screening program (etsp) has evaluated a mouse model of ds using the conditional knock-in scn1a |
2021-10-15 |
2023-08-13 |
mouse |