SCN1A c.264+5396C>T

Variant ID: 2-166924472-G-A

NM_001165963.1(SCN1A):c.264+5396C>T

This variant was identified in 4 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: rs1461197
PubMed Link: 35801810
Variant Present in the following documents:
  • Main text
  • IANN_54_2096257.pdf
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: rs1461197
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Association of SCN1A gene polymorphism with antiepileptic drug responsiveness in the population of Thrace, Greece.

Archives Of Medical Science : Ams
Angelopoulou, Christina C; Veletza, Stavroula S; Heliopoulos, Ioannis I; Vadikolias, Konstantinos K; Tripsianis, Grigorios G; Stathi, Chrysa C; Piperidou, Charitomeni C
Publication Date: 2017-02-01

Variant appearance in text: rs1461197
PubMed Link: 28144265
Variant Present in the following documents:
  • Main text
  • AMS-13-27502.pdf
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: rs1461197
PubMed Link: 27245092
Variant Present in the following documents:
  • Main text
View BVdb publication page