SCN1A c.4988T>G ;(p.L1663W)

Variant ID: 2-166848797-A-C

NM_001165963.1(SCN1A):c.4988T>G;(p.L1663W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 4988T>G; Leu1663Trp
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: 4988T>G; Leu1663Trp
PubMed Link: 34379890
Variant Present in the following documents:
  • Main text
  • EPI4-6-685.pdf
View BVdb publication page