SCN1A c.3693T>A ;(p.S1231R)

Variant ID: 2-166870266-A-T

NM_001165963.1(SCN1A):c.3693T>A;(p.S1231R)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Roles for Countercharge in the Voltage Sensor Domain of Ion Channels.

Frontiers In Pharmacology
Groome, James R JR; Bayless-Edwards, Landon L
Publication Date: 2020

Variant appearance in text: SCN1A: S1231R
PubMed Link: 32180723
Variant Present in the following documents:
  • Main text
  • fphar-11-00160.pdf
View BVdb publication page



Ex vivo Whole-cell Recordings in Adult Drosophila Brain.

Bio-Protocol
Roemmich, Alexa J AJ; Schutte, Soleil S SS; O'Dowd, Diane K DK
Publication Date: 2018-07-20

Variant appearance in text: SCN1A: S1231R
PubMed Link: 30148187
Variant Present in the following documents:
  • Main text
View BVdb publication page



INTERNEURONOPATHIES AND THEIR ROLE IN EARLY LIFE EPILEPSIES AND NEURODEVELOPMENTAL DISORDERS.

Epilepsia Open
Katsarou, Anna-Maria AM; Moshé, Solomon L SL; Galanopoulou, Aristea S AS
Publication Date: 2017-09

Variant appearance in text: Nav1.1: S1231R
PubMed Link: 29062978
Variant Present in the following documents:
  • Main text
  • EPI4-2-284.pdf
View BVdb publication page



Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10

Variant appearance in text: SCN1A: 3693T>A; Ser1231Arg
PubMed Link: 28864458
Variant Present in the following documents:
  • supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
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: S1231R
PubMed Link: 28150151
Variant Present in the following documents:
  • 13238_2017_Article_372.pdf
View BVdb publication page



Lithium-Responsive Seizure-Like Hyperexcitability Is Caused by a Mutation in the Drosophila Voltage-Gated Sodium Channel Gene paralytic.

Eneuro
Kaas, Garrett A GA; Kasuya, Junko J; Lansdon, Patrick P; Ueda, Atsushi A; Iyengar, Atulya A; Wu, Chun-Fang CF; Kitamoto, Toshihiro T
Publication Date: 2016

Variant appearance in text: SCN1A: S1231R
PubMed Link: 27844061
Variant Present in the following documents:
  • Main text
View BVdb publication page



Model systems for studying cellular mechanisms of SCN1A-related epilepsy.

Journal Of Neurophysiology
Schutte, Soleil S SS; Schutte, Ryan J RJ; Barragan, Eden V EV; O'Dowd, Diane K DK
Publication Date: 2016-04

Variant appearance in text: SCN1A: S1231R
PubMed Link: 26843603
Variant Present in the following documents:
  • Main text
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: S1231R; rs121918746
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Neonatal and Infantile Epilepsy: Acquired and Genetic Models.

Cold Spring Harbor Perspectives In Medicine
Galanopoulou, Aristea S AS; Moshé, Solomon L SL
Publication Date: 2015-12-04

Variant appearance in text: SCN1A: S1231R
PubMed Link: 26637437
Variant Present in the following documents:
  • Main text
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: S1231R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies.

Neurobiology Of Disease
Galanopoulou, Aristea S AS; Moshé, Solomon L SL
Publication Date: 2015-07

Variant appearance in text: SCN1A: S1231R
PubMed Link: 25968935
Variant Present in the following documents:
  • Main text
View BVdb publication page



Knock-in model of Dravet syndrome reveals a constitutive and conditional reduction in sodium current.

Journal Of Neurophysiology
Schutte, Ryan J RJ; Schutte, Soleil S SS; Algara, Jacqueline J; Barragan, Eden V EV; Gilligan, Jeff J; Staber, Cynthia C; Savva, Yiannis A YA; Smith, Martin A MA; Reenan, Robert R; O'Dowd, Diane K DK
Publication Date: 2014-08-15

Variant appearance in text: SCN1A: S1231R
PubMed Link: 24805083
Variant Present in the following documents:
  • Main text
View BVdb publication page