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: 2214G>A; Trp738*

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: 2214G>A; Trp738*

PubMed Link: 34379890

Variant Present in the following documents:

• Main text
• EPI4-6-685.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: W738X

PubMed Link: 33013363

Variant Present in the following documents:

• Main text

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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: 2214G>A

PubMed Link: 22848613

Variant Present in the following documents:

• Main text
• pone.0041802.pdf

View BVdb publication page