SCN1A c.2875T>C ;(p.C959R)

Variant ID: 2-166894357-A-G

NM_001165963.1(SCN1A):c.2875T>C;(p.C959R)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Publication Date: 2022-01-17

Variant appearance in text: SCN1A: C959R
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.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: C959R
PubMed Link: 33013363
Variant Present in the following documents:
  • Main text
  • fphar-11-01276.pdf
View BVdb publication page



Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06

Variant appearance in text: Nav1.1: C959R
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page



Low-dose fenfluramine significantly reduces seizure frequency in Dravet syndrome: a prospective study of a new cohort of patients.

European Journal Of Neurology
Schoonjans, A A; Paelinck, B P BP; Marchau, F F; Gunning, B B; Gammaitoni, A A; Galer, B S BS; Lagae, L L; Ceulemans, B B
Publication Date: 2017-02

Variant appearance in text: SCN1A: 2875T>C
PubMed Link: 27790834
Variant Present in the following documents:
  • Main text
  • ENE-24-309.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: SMEI: C959R; rs121918796
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: SCN1A: C959R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

The European Journal Of Neuroscience
Volkers, Linda L; Kahlig, Kristopher M KM; Verbeek, Nienke E NE; Das, Joost H G JH; van Kempen, Marjan J A MJ; Stroink, Hans H; Augustijn, Paul P; van Nieuwenhuizen, Onno O; Lindhout, Dick D; George, Alfred L AL; Koeleman, Bobby P C BP; Rook, Martin B MB
Publication Date: 2011-10

Variant appearance in text: SCN1A: C959R
PubMed Link: 21864321
Variant Present in the following documents:
  • Main text
View BVdb publication page