SCN1A c.*1961C>T

Variant ID: 2-166845794-G-A

NM_001165963.1(SCN1A):c.*1961C>T

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.

Annals Of Medicine
Alghamdi, Mansour A MA; Al-Eitan, Laith N LN; Asiri, Ashwag A; Rababa'h, Doaa M DM; Alqahtani, Sultan A SA; Aldarami, Mohammed S MS; Alsaeedi, Manar A MA; Almuidh, Raghad S RS; Alzahrani, Abdulbari A AA; Sakah, Ahmad H AH; El Nashar, Eman Mohamad EM; Otaif, Mansour Y MY; Abdel Ghaffar, Nawal F NF
Publication Date: 2022-12

Variant appearance in text: rs7577411
PubMed Link: 35801810
Variant Present in the following documents:
  • Main text
  • IANN_54_2096257.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs7577411
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs7577411
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Evaluating the Role of Genetic Variants on first-line antiepileptic drug response in North India: Significance of SCN1A and GABRA1 Gene Variants in Phenytoin Monotherapy and its Serum Drug Levels.

Cns Neuroscience & Therapeutics
Baghel, Ruchi R; Grover, Sandeep S; Kaur, Harpreet H; Jajodia, Ajay A; Rawat, Chitra C; Srivastava, Ankit A; Kushwaha, Suman S; Agarwal, Rachna R; Sharma, Sangeeta S; Kukreti, Ritushree R
Publication Date: 2016-09

Variant appearance in text: rs7577411
PubMed Link: 27245092
Variant Present in the following documents:
  • Main text
View BVdb publication page



A robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samples.

Plos One
van der Werf, Ilse M IM; Kooy, R Frank RF; Vandeweyer, Geert G
Publication Date: 2015

Variant appearance in text: rs7577411
PubMed Link: 25875648
Variant Present in the following documents:
  • Main text
  • pone.0123872.pdf
View BVdb publication page



Effects of SCN1A and GABA receptor genetic polymorphisms on carbamazepine tolerability and efficacy in Chinese patients with partial seizures: 2-year longitudinal clinical follow-up.

Cns Neuroscience & Therapeutics
Zhou, Bo-Ting BT; Zhou, Qiu-Hong QH; Yin, Ji-Ye JY; Li, Guo-Liang GL; Qu, Jian J; Xu, Xiao-Jing XJ; Liu, Ding D; Zhou, Hong-Hao HH; Liu, Zhao-Qian ZQ
Publication Date: 2012-07

Variant appearance in text: rs7577411
PubMed Link: 22591328
Variant Present in the following documents:
  • Main text
View BVdb publication page