| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Xue-Ling Hu, Xiao-Xue Wang, Yan-Meng Zhu, Li-Na Xuan, Li-Wei Peng, Yun-Qi Liu, Hua Yang, Chao Yang, Lei Jiao, Peng-Zhou Hang, Li-Hua Su. MicroRNA-132 regulates total protein of Nav1.1 and Nav1.2 in the hippocampus and cortex of rat with chronic cerebral hypoperfusion. Behavioural brain research. vol 366. 2020-03-26. PMID:30885820. |
nav1.1 and nav1.2 are the voltage-gated sodium channel alpha subunit1 and 2, encoded by the genes of scn1a and scn2a. |
2020-03-26 |
2023-08-13 |
human |
| Yasuko Nakamura, Hiroshi Matsumoto, Kiyotaka Zah. A case of Dravet syndrome complicated by human herpesvirus-6 infection-associated acute encephalopathy and choreoathetosis. No to hattatsu = Brain and development. vol 49. issue 1. 2018-08-27. PMID:30011152. |
we report the case of a 14-month-old girl with dravet syndrome carrying a splice-site mutation of c. 1170+1g>a on neuronal sodium channel alpha 1 subunit (scn1a). |
2018-08-27 |
2023-08-13 |
human |
| Tetsushi Yamagata, Ikuo Ogiwara, Emi Mazaki, Yuchio Yanagawa, Kazuhiro Yamakaw. Nav1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons: Mutually exclusive distributions of Nav1.1 and Nav1.2. Biochemical and biophysical research communications. vol 491. issue 4. 2017-10-10. PMID:28784306. |
nav1.1 and nav1.2 are the voltage-gated sodium channel pore-forming alpha i and ii subunits, encoded by the genes scn1a and scn2a. |
2017-10-10 |
2023-08-13 |
Not clear |
| Tian Li, Yaoyun Kuang, Bin L. The genetic variants in 3' untranslated region of voltage-gated sodium channel alpha 1 subunit gene affect the mRNA-microRNA interactions and associate with epilepsy. BMC genetics. vol 17. issue 1. 2017-09-13. PMID:27473590. |
the mutations in the coding region of voltage-gated sodium channel alpha 1 subunit gene, scn1a, were identified in epileptic patients and confirmed as causative factors of epilepsy. |
2017-09-13 |
2023-08-13 |
Not clear |
| Dennis Lal, Eva M Reinthaler, Borislav Dejanovic, Patrick May, Holger Thiele, Anna-Elina Lehesjoki, Günter Schwarz, Erik Riesch, M Arfan Ikram, Cornelia M van Duijn, Andre G Uitterlinden, Albert Hofman, Hannelore Steinböck, Ursula Gruber-Sedlmayr, Birgit Neophytou, Federico Zara, Andreas Hahn, Padhraig Gormley, Felicitas Becker, Yvonne G Weber, Maria Roberta Cilio, Wolfram S Kunz, Roland Krause, Fritz Zimprich, Johannes R Lemke, Peter Nürnberg, Thomas Sander, Holger Lerche, Bernd A Neubaue. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PloS one. vol 11. issue 3. 2016-08-01. PMID:26990884. |
the scn1a gene, coding for the voltage-gated na+ channel alpha subunit nav1.1, is the clinically most relevant epilepsy gene. |
2016-08-01 |
2023-08-13 |
Not clear |
| Shinsaku Yoshitomi, Yukitoshi Takahashi, Mamiko Ishizuka, Tokito Yamaguchi, Akito Watanabe, Hirosato Nasu, Yuki Ueda, Hideyuki Ohtani, Hiroko Ikeda, Katsumi Imai, Hideo Shigematsu, Yushi Inoue, Yoshihiro Tanahashi, Kaori Aiba, Hodaka Ohta, Shino Shimada, Toshiyuki Yamamot. Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications. Brain & development. vol 37. issue 9. 2016-05-26. PMID:25843248. |
mutations of voltage-gated sodium channel type i alpha subunit gene (scn1a) are to be causally related with several phenotypes of epilepsy, generalized epilepsy with febrile seizure plus (gefs+), dravet syndrome, and other infantile epileptic encephalopathies. |
2016-05-26 |
2023-08-13 |
Not clear |
| Andreas Brunklaus, Rachael Ellis, Helen Stewart, Sarah Aylett, Eleanor Reavey, Ros Jefferson, Rakesh Jain, Supratik Chakraborty, Sandeep Jayawant, Sameer M Zuber. Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 19. issue 4. 2016-04-07. PMID:25795284. |
mutations in the gene encoding the alpha subunit of the voltage-gated sodium channel scn1a are associated with several epilepsy syndromes. |
2016-04-07 |
2023-08-13 |
Not clear |
| Karen L Skjei, Ephraim W Church, Brian N Harding, Mariarita Santi, Katherine D Holland-Bouley, Robert R Clancy, Brenda E Porter, Gregory G Heuer, Eric D Mars. Clinical and histopathological outcomes in patients with SCN1A mutations undergoing surgery for epilepsy. Journal of neurosurgery. Pediatrics. vol 16. issue 6. 2016-03-28. PMID:26339958. |
mutations in the sodium channel alpha 1 subunit gene (scn1a) have been associated with a wide range of epilepsy phenotypes including dravet syndrome. |
2016-03-28 |
2023-08-13 |
Not clear |
| Nuran Tunc-Skarka, Sandra Meier, Traute Demirakca, Markus Sack, Wolfgang Weber-Fahr, Wencke Brusniak, Isabella Wolf, Franziska Matthäus, Thomas G Schulze, Carsten Diener, Gabriele End. Effects of normal aging and SCN1A risk-gene expression on brain metabolites: evidence for an association between SCN1A and myo-inositol. NMR in biomedicine. vol 27. issue 2. 2014-10-24. PMID:24357141. |
alterations in the sodium channel voltage gated type i, alpha subunit scn1a variant rs10930201 have been reported to be associated with several neurological disorders with cognitive deficits. |
2014-10-24 |
2023-08-12 |
human |
| Dena Matalon, Ethan Goldberg, Livija Medne, Eric D Mars. Confirming an expanded spectrum of SCN2A mutations: a case series. Epileptic disorders : international epilepsy journal with videotape. vol 16. issue 1. 2014-09-22. PMID:24659627. |
mutation of scn1a, the gene encoding the voltage gated sodium channel (vgsc) alpha subunit type 1 (nav1.1), causes dravet syndrome spectrum disorders. |
2014-09-22 |
2023-08-12 |
Not clear |
| Shad B Smith, Ellen Mir, Eric Bair, Gary D Slade, Ronald Dubner, Roger B Fillingim, Joel D Greenspan, Richard Ohrbach, Charles Knott, Bruce Weir, William Maixner, Luda Diatchenk. Genetic variants associated with development of TMD and its intermediate phenotypes: the genetic architecture of TMD in the OPPERA prospective cohort study. The journal of pain. vol 14. issue 12 Suppl. 2014-07-31. PMID:24275226. |
nonspecific orofacial symptoms were associated with voltage-gated sodium channel, type i, alpha subunit (scn1a, rs6432860, p = 2.77 × 10(-5)) and angiotensin i-converting enzyme 2 (ace2, rs1514280, p = 4.86 × 10(-5)); global psychological symptoms with prostaglandin-endoperoxide synthase 1 (ptgs1, rs3842803, p = 2.79 × 10(-6)); stress and negative affectivity with amyloid-β (a4) precursor protein (app, rs466448, p = 4.29 × 10(-5)); and heat pain temporal summation with multiple pdz domain protein (mpdz, rs10809907, p = 3.05 × 10(-5)). |
2014-07-31 |
2023-08-12 |
Not clear |
| Jiao Jiao, Yuanyuan Yang, Yiwu Shi, Jiayu Chen, Rui Gao, Yong Fan, Hui Yao, Weiping Liao, Xiao-Fang Sun, Shaorong Ga. Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons. Human molecular genetics. vol 22. issue 21. 2014-04-30. PMID:23773995. |
severe myoclonic epilepsy of infancy (smei, also known as dravet syndrome) and genetic epilepsy with febrile seizures plus (mild febrile seizures) can both arise due to mutations of scn1a, the gene encoding alpha 1 pore-forming subunit of the nav1.1 voltage-gated sodium channel. |
2014-04-30 |
2023-08-12 |
Not clear |
| Katja Menzler, Anke Hermsen, Katharina Balkenhol, Caroline Duddek, Hannes Bugiel, Sebastian Bauer, Stephanie Schorge, Philipp S Reif, Karl Martin Klein, Anja Haag, Wolfgang H Oertel, Hajo M Hamer, Susanne Knake, Holger Trucks, Thomas Sander, Felix Roseno. A common SCN1A splice-site polymorphism modifies the effect of carbamazepine on cortical excitability--a pharmacogenetic transcranial magnetic stimulation study. Epilepsia. vol 55. issue 2. 2014-04-07. PMID:24417206. |
scn1a encodes the alpha subunit of the voltage-gated sodium channel and plays a crucial role in several epilepsy syndromes. |
2014-04-07 |
2023-08-12 |
Not clear |
| Ritu Kumari, Ram Lakhan, Surendra Kumar, R K Garg, U K Misra, J Kalita, Balraj Mitta. SCN1AIVS5-91G>A polymorphism is associated with susceptibility to epilepsy but not with drug responsiveness. Biochimie. vol 95. issue 6. 2013-11-07. PMID:23466530. |
sodium channel alpha subunit type 1 (scn1a) is voltage gated ion channel which plays critical role in membrane excitability. |
2013-11-07 |
2023-08-12 |
human |
| Andreas Brunklaus, Liam Dorris, Rachael Ellis, Eleanor Reavey, Elizabeth Lee, Gordon Forbes, Richard Appleton, J Helen Cross, Colin Ferrie, Imelda Hughes, Alice Jollands, Mary D King, John Livingston, Bryan Lynch, Sunny Philip, Ingrid E Scheffer, Ruth Williams, Sameer M Zuber. The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy. Developmental medicine and child neurology. vol 55. issue 2. 2013-03-14. PMID:23163885. |
mutations in the sodium channel alpha 1 subunit (scn1a) gene are most notably associated with dravet syndrome. |
2013-03-14 |
2023-08-12 |
Not clear |
| Silke Appenzeller, Ingo Helbig, Ulrich Stephani, Martin Häusler, Gerhard Kluger, May Bungeroth, Stefanie Müller, Gregor Kuhlenbäumer, Andreas van Baale. Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations. Developmental medicine and child neurology. vol 54. issue 12. 2013-02-07. PMID:23066759. |
fires shares several phenotypic features with epilepsies seen in patients with protocadherin 19 (pcdh19), sodium channel protein type 1 subunit alpha (scn1a), and dna polymerase subunit gamma-1 (polg) mutations. |
2013-02-07 |
2023-08-12 |
Not clear |
| A Brunklaus, R Ellis, E Reavey, G H Forbes, S M Zuber. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain : a journal of neurology. vol 135. issue Pt 8. 2012-10-17. PMID:22719002. |
dravet syndrome is a severe infantile onset epileptic encephalopathy associated with mutations in the sodium channel alpha 1 subunit gene scn1a. |
2012-10-17 |
2023-08-12 |
Not clear |
| Gregory L Holmes, Alex C Bender, Edie X Wu, Rod C Scott, Pierre Pascal Lenck-Santini, Richard P Mors. Maturation of EEG oscillations in children with sodium channel mutations. Brain & development. vol 34. issue 6. 2012-10-12. PMID:21940124. |
the majority of children with ds carry mutations of the gene scn1a, which codes for the alpha subunit of the type 1 voltage-gated sodium channel and is important for the function of interneurons. |
2012-10-12 |
2023-08-12 |
Not clear |
| Nicola Specchio, Martina Balestri, Marina Trivisano, Natia Japaridze, Pasquale Striano, Antonio Carotenuto, Simona Cappelletti, Luigi M Specchio, Lucia Fusco, Federico Vigevan. Electroencephalographic features in dravet syndrome: five-year follow-up study in 22 patients. Journal of child neurology. vol 27. issue 4. 2012-08-01. PMID:22019839. |
electroencephalogram findings seemed to be age dependent, variable among different patients, and not influenced by the presence of sodium channel, voltage-gated, type i, alpha subunit (scn1a) mutation. |
2012-08-01 |
2023-08-12 |
Not clear |
| Brian D Moseley, Elaine C Wirrell, Katherine Nickel. Generalized periodic epileptiform discharges in a child with Dravet syndrome. Journal of child neurology. vol 26. issue 7. 2012-05-14. PMID:21335542. |
the child was subsequently found to have a de novo mutation of the sodium channel, voltage-gated, type i, alpha subunit (scn1a) gene consistent with dravet syndrome. |
2012-05-14 |
2023-08-12 |
Not clear |