SCN1A c.1630del ;(p.T544Hfs*14)

Variant ID: 2-166901585-GT-G

NM_001165963.1(SCN1A):c.1630del;(p.T544Hfs*14)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.

Journal Of Epilepsy Research
Ko, Young Jun YJ; Yoo, Il Han IH; Lee, Jiwon J; Lee, Jeehun J; Yum, Mi-Sun MS; Ko, Tae-Sung TS; Kim, Hunmin H; Hwang, Hee H; Kim, Soo Yeon SY; Chae, Jong-Hee JH; Choi, Ji-Eun JE; Kim, Ki Joong KJ; Lim, Byung Chan BC
Publication Date: 2021-12

Variant appearance in text: SCN1A: 1630del; Thr544Hisfs*14
PubMed Link: 35087721
Variant Present in the following documents:
  • jer-21019.pdf
View BVdb publication page



Large-scale structural alteration of brain in epileptic children with SCN1A mutation.

Neuroimage. Clinical
Lee, Yun-Jeong YJ; Yum, Mi-Sun MS; Kim, Min-Jee MJ; Shim, Woo-Hyun WH; Yoon, Hee Mang HM; Yoo, Il Han IH; Lee, Jiwon J; Lim, Byung Chan BC; Kim, Ki Joong KJ; Ko, Tae-Sung TS
Publication Date: 2017

Variant appearance in text: SCN1A: 1630delA
PubMed Link: 28664031
Variant Present in the following documents:
  • Main text
View BVdb publication page