SCN1A c.1348C>T ;(p.Q450*)

Variant ID: 2-166903309-G-A

NM_001165963.1(SCN1A):c.1348C>T;(p.Q450*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Frontiers In Neurology
Ding, Jiangwei J; Li, Xinxiao X; Tian, Haiyan H; Wang, Lei L; Guo, Baorui B; Wang, Yangyang Y; Li, Wenchao W; Wang, Feng F; Sun, Tao T
Publication Date: 2021

Variant appearance in text: SCN1A: 1348C>T
PubMed Link: 35002916
Variant Present in the following documents:
  • Main text
  • fneur-12-743726.pdf
View BVdb publication page



High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.

Epilepsia Open
Kwong, Anna Ka-Yee AK; Wong, Virginia Chun-Nei VC; Wong, Sheila Suet-Na SS; Chu, Vanessa Loi-Yan VL; Koene, Saskia S; Smeitink, Jan J; Fung, Cheuk-Wing CW
Publication Date: 2021-12

Variant appearance in text: SCN1A: 1348C>T; Gln450*
PubMed Link: 34379890
Variant Present in the following documents:
  • Main text
  • EPI4-6-685.pdf
View BVdb publication page



High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.

Epilepsia Open
Kwong, Anna Ka-Yee AK; Wong, Virginia Chun-Nei VC; Wong, Sheila Suet-Na SS; Chu, Vanessa Loi-Yan VL; Koene, Saskia S; Smeitink, Jan J; Fung, Cheuk-Wing CW
Publication Date: 2021-12

Variant appearance in text: SCN1A: 1348C>T; Gln450*
PubMed Link: 34379890
Variant Present in the following documents:
  • Main text
  • EPI4-6-685.pdf
View BVdb publication page



Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

Plos One
Kwong, Anna Ka-Yee AK; Fung, Cheuk-Wing CW; Chan, Siu-Yuen SY; Wong, Virginia Chun-Nei VC
Publication Date: 2012

Variant appearance in text: SCN1A: 1348C>T
PubMed Link: 22848613
Variant Present in the following documents:
  • Main text
  • pone.0041802.pdf
View BVdb publication page