Publications:

Acute liver failure associated with lamotrigine in children with epilepsy: A report of two cases and thoughts on pharmacogenomics.

Epilepsy & Behavior Reports

Deng, Jie J; Fu, Zheng-Ran ZR; Wang, Long L; Liu, Jun J; Chen, Chun-Hong CH; Fang, Fang F; Wang, Xiao-Ling XL

Publication Date: 2022

Variant appearance in text: SCN1A: His324Pro

PubMed Link: 36345310

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Frontiers In Neurology

Gonsales, Marina C MC; Montenegro, Maria Augusta MA; Preto, Paula P; Guerreiro, Marilisa M MM; Coan, Ana Carolina AC; Quast, Monica Paiva MP; Carvalho, Benilton S BS; Lopes-Cendes, Iscia I

Publication Date: 2019

Variant appearance in text: SCN1A: 971A>C

PubMed Link: 31001185

Variant Present in the following documents:

• Main text
• fneur-10-00289.pdf

View BVdb publication page

Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.

Scientific Reports

Yang, Xiaoxu X; Liu, Aijie A; Xu, Xiaojing X; Yang, Xiaoling X; Zeng, Qi Q; Ye, Adam Yongxin AY; Yu, Zhe Z; Wang, Sheng S; Huang, August Yue AY; Wu, Xiru X; Wu, Qixi Q; Wei, Liping L; Zhang, Yuehua Y

Publication Date: 2017-11-15

Variant appearance in text: SCN1A: 971A>C

PubMed Link: 29142202

Variant Present in the following documents:

• 41598_2017_15814_MOESM1_ESM.pdf

View BVdb publication page