SCN1A c.825T>G ;(p.N275K)

Variant ID: 2-166908368-A-C

NM_001165963.1(SCN1A):c.825T>G;(p.N275K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases.

Frontiers In Molecular Neuroscience
Chen, Chunhong C; Fang, Fang F; Wang, Xu X; Lv, Junlan J; Wang, Xiaohui X; Jin, Hong H
Publication Date: 2022

Variant appearance in text: SMEI: 825T>G
PubMed Link: 35571373
Variant Present in the following documents:
  • Main text
  • fnmol-15-821012.pdf
View BVdb publication page



Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Frontiers In Pharmacology
Menezes, Luis Felipe Santos LFS; Sabiá Júnior, Elias Ferreira EF; Tibery, Diogo Vieira DV; Carneiro, Lilian Dos Anjos LDA; Schwartz, Elisabeth Ferroni EF
Publication Date: 2020

Variant appearance in text: SCN1A: N275K
PubMed Link: 33013363
Variant Present in the following documents:
  • Main text
  • fphar-11-01276.pdf
View BVdb publication page