| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Majed Alluqmani, Abdulfatah M Alayoubi, Jamil A Hashmi, Sulman Basi. De novo Frontiers in genetics. vol 15. 2024-11-21. PMID:39568674. |
de novo variants in a gene encoding sodium voltage-gated channel alpha subunit 1 (scn1a) are known to cause a broad clinical spectrum of epilepsy and associated features, including dravet syndrome (mim 607208), non-dravet developmental and epileptic encephalopathy (mim 619317), familial febrile seizures (mim 604403), familial hemiplegic migraine (mim 609634), and generalized epilepsy with febrile seizures (mim 604403). |
2024-11-21 |
2024-11-23 |
Not clear |
| Mohammed Fouad Zakaria, Hiroki Kato, Soichiro Sonoda, Kenichi Kato, Norihisa Uehara, Yukari Kyumoto-Nakamura, Mohammed Majd Sharifa, Liting Yu, Lisha Dai, Haruyoshi Yamaza, Shunichi Kajioka, Fusanori Nishimura, Takayoshi Yamaz. NaV1.1 contributes to the cell cycle of human mesenchymal stem cells by regulating AKT and CDK2. Journal of cell science. vol 137. issue 19. 2024-10-10. PMID:39258309. |
non-excitable cells express sodium voltage-gated channel alpha subunit 1 gene and protein (known as scn1a and nav1.1, respectively); however, the functions of nav1.1 are unclear. |
2024-10-10 |
2024-10-12 |
human |
| Costanza Sottani, Giulia Di Lazzaro, Paolo Calabresi, Maria Grazia Pomponi, Francesco Danilo Tiziano, Anna Rita Bentivoglio, Serenella Servidei, Catello Vollon. Efficacy of galcanezumab in proline-rich transmembrane protein 2 (PRRT2)-associated familial hemiplegic migraine: A case series. Headache. 2024-09-30. PMID:39345003. |
variants in calcium voltage-gated channel subunit alpha1 a (cacna1a), atpase na+/k+ transporting subunit alpha 2 (atp1a2), and sodium voltage-gated channel alpha subunit 1 (scn1a) genes have a well-established association with the development of fhm. |
2024-09-30 |
2024-10-02 |
Not clear |
| Byumseok Koh, Young Eun Kim, Sung Bum Park, Seong Soon Kim, Jangjae Lee, Jeong Hyeon Jo, KyungJin Lee, Dong Hyuck Bae, Tae-Young Kim, Sung-Hee Cho, Myung Ae Bae, Dukjin Kang, Ki Young Ki. Unraveling the Molecular Landscape of SCN1A Gene Knockout in Cerebral Organoids: A Multiomics Approach Utilizing Proteomics, Lipidomics, and Transcriptomics. ACS omega. vol 9. issue 38. 2024-09-30. PMID:39346820. |
this study investigates the impact of sodium channel protein type 1 subunit alpha (scn1a) gene knockout (scn1a ko) on brain development and function using cerebral organoids coupled with a multiomics approach. |
2024-09-30 |
2024-10-02 |
Not clear |
| Indrayani Jadhav, Keta Vagha, Ashish Varma, Jayant D Vagha, Yash V Lath, Jaywant Jadha. Deciphering the Complexities of Sodium Voltage-Gated Channel Alpha Subunit 1 (SCN1A) Mutation: A Case of Intractable Epilepsy in a Five-and-a-Half-Month-Old Male. Cureus. vol 16. issue 7. 2024-08-09. PMID:39119390. |
deciphering the complexities of sodium voltage-gated channel alpha subunit 1 (scn1a) mutation: a case of intractable epilepsy in a five-and-a-half-month-old male. |
2024-08-09 |
2024-08-12 |
Not clear |
| Ana Ricobaraza, Maria Bunuales, Manuela Gonzalez-Aparicio, Saja Fadila, Moran Rubinstein, Irene Vides-Urrestarazu, Julliana Banderas, Noemi Sola-Sevilla, Rocio Sanchez-Carpintero, Jose Luis Lanciego, Elvira Roda, Adriana Honrubia, Patricia Arnaiz, Ruben Hernandez-Alcoceb. Preferential expression of SCN1A in GABAergic neurons improves survival and epileptic phenotype in a mouse model of Dravet syndrome. Journal of molecular medicine (Berlin, Germany). 2023-10-11. PMID:37819378. |
the scn1a gene encodes the alpha subunit of a voltage-gated sodium channel (na |
2023-10-11 |
2023-10-15 |
mouse |
| Jianning Yue, Qi Wang, Wenxing Zhao, Baishan Wu, Jiaxiang N. Long non-coding RNA Snhg16 Lessens Ozone Curative Effect on Chronic Constriction Injury mice via microRNA-719/SCN1A axis. Molecular biotechnology. 2023-08-26. PMID:37632673. |
qrt-pcr was performed to detect expressions of snhg16, microrna (mir)-719, sodium voltage-gated channel alpha subunit 1 (scn1a), and inflammatory factors. |
2023-08-26 |
2023-09-07 |
mouse |
| Rami Abduljabbar, Tamimi Duaa Eid, Al-Motassem Yousef, Saeed Ramzi Mukred, Mohammed Zawia. SCN1A polymorphisms influence the antiepileptic drugs responsiveness in Jordanian epileptic patients. Journal of medical biochemistry. vol 42. issue 2. 2023-03-29. PMID:36987424. |
the aim of this study was to evaluate whether the voltage-gated sodium channel alpha subunit 1 (scn1a) gene polymorphisms influence the responsiveness of jordanian epileptic patients to antiepileptic drugs (aeds). |
2023-03-29 |
2023-08-14 |
Not clear |
| Susanna Pagni, Helena Martins Custodio, Adam Frankish, Jonathan M Mudge, James D Mills, Sanjay M Sisodiy. SCN1A: bioinformatically-informed revised boundaries for promoter and enhancer regions. Human molecular genetics. 2023-01-30. PMID:36715146. |
pathogenic variations in the sodium voltage-gated channel alpha subunit 1 (scn1a) gene are responsible for multiple epilepsy phenotypes, including dravet syndrome (ds), febrile seizures (fs), and genetic epilepsy with febrile seizures plus (gefs+). |
2023-01-30 |
2023-08-14 |
human |
| Maria Reiber, Nina Miljanovic, Katharina Schönhoff, Rupert Palme, Heidrun Potschk. Behavioral phenotyping of young Scn1a haploinsufficient mice. Epilepsy & behavior : E&B. vol 136. 2022-10-14. PMID:36240579. |
in most patients, dravet syndrome is caused by a heterozygous loss-of-function mutation in the scn1a gene encoding the alpha 1 subunit of the sodium channel. |
2022-10-14 |
2023-08-14 |
mouse |
| Esraa Ghazala, Doaa A Shahin, Yahya Wahb. Polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (SCN1A -A3184G) gene among children with non-lesional epilepsy: a case-control study. Italian journal of pediatrics. vol 48. issue 1. 2022-09-02. PMID:36056404. |
polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (scn1a -a3184g) gene among children with non-lesional epilepsy: a case-control study. |
2022-09-02 |
2023-08-14 |
Not clear |
| Esraa Ghazala, Doaa A Shahin, Yahya Wahb. Polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (SCN1A -A3184G) gene among children with non-lesional epilepsy: a case-control study. Italian journal of pediatrics. vol 48. issue 1. 2022-09-02. PMID:36056404. |
mutations in the neuronal sodium voltage-gated channel, alpha subunit 1 (scn1a) gene have been associated with epilepsy. |
2022-09-02 |
2023-08-14 |
Not clear |
| Katarina Ceska, Pavlina Danhofer, Ondrej Horak, Klara Spanelova, Senad Kolar, Hana Oslejskova, Stefania Aulick. Phenotypic spectrum of the SCN1A mutation (from febrile seizures to Dravet syndrome). Bratislavske lekarske listy. vol 123. issue 7. 2022-07-30. PMID:35907053. |
with the dravet's syndrome phenotype are associated with the detection of a sequence variant in the scn1a gene (alpha 1 subunit of the voltage-gated sodium channel) (2). |
2022-07-30 |
2023-08-14 |
Not clear |
| Muhammad Imran Naseer, Angham Abdulrhman Abdulkareem, Mahmood Rasool, Hussein Algahtani, Osama Yousef Muthaffar, Peter Natesan Pushpara. Whole-Exome Sequencing Identifies Novel Frontiers in pediatrics. vol 10. 2022-07-11. PMID:35813387. |
in this study, whole-exome sequencing showed a family having novel missense variant c.1603c>t, p. arg535cys in exon 10 of sodium voltage-gated channel alpha subunit 1 (scn1a) gene. |
2022-07-11 |
2023-08-14 |
Not clear |
| 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 |
| Jie Wang, Jing-Da Qiao, Xiao-Rong Liu, De-Tian Liu, Yan-Hui Chen, Yi Wu, Yan Sun, Jing Yu, Rong-Na Ren, Zhen Mei, Yu-Xi Liu, Yi-Wu Shi, Mi Jiang, Si-Mei Lin, Na He, Bin Li, Wen-Jun Bian, Bing-Mei Li, Yong-Hong Yi, Tao Su, Han-Kui Liu, Wei-Yue Gu, Wei-Ping Lia. UNC13B variants associated with partial epilepsy with favourable outcome. Brain : a journal of neurology. vol 144. issue 10. 2021-12-09. PMID:33876820. |
in drosophila, seizure rate and duration were increased by unc13b knockdown compared to wild-type flies, but these effects were less pronounced than in sodium voltage-gated channel alpha subunit 1 (scn1a) knockdown drosophila. |
2021-12-09 |
2023-08-13 |
human |
| Ana Carla Mondek Rampazzo, Rafael Rodrigues Pinheiro Dos Santos, Fernando Arfux Maluf, Renata Faria Simm, Fernando Augusto Lima Marson, Manoela Marques Ortega, Paulo Henrique Pires de Aguia. Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants. Neurogenetics. vol 22. issue 2. 2021-12-03. PMID:33937968. |
approximately 80% of patients with this syndrome present scn1a pathogenic variants, which encodes an alpha subunit of a neural voltage-dependent sodium channel. |
2021-12-03 |
2023-08-13 |
Not clear |
| 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 |
| Masahiro Kanatani, Tadashi Adachi, Ryoichi Sakata, Yoko Nishimura, Yoshiaki Saito, Yoshihiro Maegaki, Yasuhiro Watanabe, Ritsuko Hanajim. Dravet syndrome with parkinsonian symptoms and intact dopaminergic neurons: A case report. Brain & development. vol 43. issue 3. 2021-10-04. PMID:33199159. |
dravet syndrome (ds) is severe myoclonic epilepsy in infancy and associated with a heterozygous mutation of the gene for the sodium channel alpha 1 subunit (scn1a). |
2021-10-04 |
2023-08-13 |
Not clear |
| Yael Almog, Saja Fadila, Marina Brusel, Anat Mavashov, Karen Anderson, Moran Rubinstei. Developmental alterations in firing properties of hippocampal CA1 inhibitory and excitatory neurons in a mouse model of Dravet syndrome. Neurobiology of disease. vol 148. 2021-03-23. PMID:33271326. |
dravet syndrome (dravet) is a rare, severe childhood-onset epilepsy, caused by heterozygous de novo mutations in the scn1a gene, encoding for the alpha subunit of the voltage-gated sodium channel, na |
2021-03-23 |
2023-08-13 |
mouse |