SCN1A c.225G>T ;(p.E75D)

Variant ID: 2-166929907-C-A

NM_001165963.1(SCN1A):c.225G>T;(p.E75D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: E75D
PubMed Link: 33013363
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.

Scientific Reports
Arafat, Ahmed A; Jing, Peng P; Ma, Yuping Y; Pu, Miao M; Nan, Gai G; Fang, He H; Chen, Chen C; Fei, Yin Y
Publication Date: 2017-04-07

Variant appearance in text: SCN1A: 225G>T; E75D
PubMed Link: 28387369
Variant Present in the following documents:
  • Main text
View BVdb publication page