SCN1A c.135C>G ;(p.D45E)

Variant ID: 2-166929997-G-C

NM_001165963.1(SCN1A):c.135C>G;(p.D45E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Response to Sodium Channel blocking Antiseizure medications and coding polymorphisms of Sodium Channel genes in Taiwanese epilepsy patients.

Bmc Neurology
Lin, Chih-Hsiang CH; Ho, Chen-Jui CJ; Lu, Yan-Ting YT; Tsai, Meng-Han MH
Publication Date: 2021-09-23

Variant appearance in text: rs201985242
PubMed Link: 34556045
Variant Present in the following documents:
  • Main text
  • 12883_2021_Article_2395.pdf
View BVdb publication page



Identification of potential candidate genes and pathways in atrioventricular nodal reentry tachycardia by whole-exome sequencing.

Clinical And Translational Medicine
Luo, Rong R; Zheng, Chenqing C; Yang, Hao H; Chen, Xuepin X; Jiang, Panpan P; Wu, Xiushan X; Yang, Zhenglin Z; Shen, Xia X; Li, Xiaoping X
Publication Date: 2020-01

Variant appearance in text: SCN1A: 135C>G; Asp45Glu
PubMed Link: 32508047
Variant Present in the following documents:
  • Main text
  • CTM2-10-238.pdf
View BVdb publication page



Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open
Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S
Publication Date: 2019-09

Variant appearance in text: SCN1A: 135C>G; Asp45Glu
PubMed Link: 31440721
Variant Present in the following documents:
  • EPI4-4-397-s003.xlsx, sheet 1
View BVdb publication page