SCN1A c.1088C>G ;(p.T363R)

Variant ID: 2-166904219-G-C

NM_001165963.1(SCN1A):c.1088C>G;(p.T363R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.

Journal Of Epilepsy Research
Ko, Young Jun YJ; Yoo, Il Han IH; Lee, Jiwon J; Lee, Jeehun J; Yum, Mi-Sun MS; Ko, Tae-Sung TS; Kim, Hunmin H; Hwang, Hee H; Kim, Soo Yeon SY; Chae, Jong-Hee JH; Choi, Ji-Eun JE; Kim, Ki Joong KJ; Lim, Byung Chan BC
Publication Date: 2021-12

Variant appearance in text: SCN1A: 1088C>G; Thr363Arg
PubMed Link: 35087721
Variant Present in the following documents:
  • jer-21019.pdf
View BVdb publication page



L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.

Membranes
Tarnovskaya, Svetlana I SI; Kostareva, Anna A AA; Zhorov, Boris S BS
Publication Date: 2021-08-07

Variant appearance in text: SCN1A: T363R
PubMed Link: 34436362
Variant Present in the following documents:
  • Main text
  • membranes-11-00599.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: T363R
PubMed Link: 33013363
Variant Present in the following documents:
  • Main text
View BVdb publication page



Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.

Molecular Genetics & Genomic Medicine
Lee, Jiwon J; Lee, Chung C; Ki, Chang-Seok CS; Lee, Jeehun J
Publication Date: 2020-09

Variant appearance in text: SCN1A: 1088C>G
PubMed Link: 32613771
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1376.pdf
View BVdb publication page



Large-scale structural alteration of brain in epileptic children with SCN1A mutation.

Neuroimage. Clinical
Lee, Yun-Jeong YJ; Yum, Mi-Sun MS; Kim, Min-Jee MJ; Shim, Woo-Hyun WH; Yoon, Hee Mang HM; Yoo, Il Han IH; Lee, Jiwon J; Lim, Byung Chan BC; Kim, Ki Joong KJ; Ko, Tae-Sung TS
Publication Date: 2017

Variant appearance in text: SCN1A: Thr363Arg
PubMed Link: 28664031
Variant Present in the following documents:
  • Main text
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: SCN1A: T363R
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page