SCN1A c.5362A>G ;(p.N1788D)

Variant ID: 2-166848423-T-C

NM_001165963.1(SCN1A):c.5362A>G;(p.N1788D)

This variant was identified in 3 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; BrĂ¼nger, 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: N1788D
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.pdf
View BVdb publication page



Cannabidiol Mellows Out Resurgent Sodium Current.

Epilepsy Currents
Thompson, Christopher H CH; Kearney, Jennifer A JA
Publication Date: 2016

Variant appearance in text: SCN1A: N1788D
PubMed Link: 27857623
Variant Present in the following documents:
  • Main text
View BVdb publication page



Aberrant epilepsy-associated mutant Nav1.6 sodium channel activity can be targeted with cannabidiol.

Brain : A Journal Of Neurology
Patel, Reesha R RR; Barbosa, Cindy C; Brustovetsky, Tatiana T; Brustovetsky, Nickolay N; Cummins, Theodore R TR
Publication Date: 2016-08

Variant appearance in text: SCN1A: N1788D
PubMed Link: 27267376
Variant Present in the following documents:
  • Main text
View BVdb publication page