SCN1A c.2860G>C ;(p.E954Q)

Variant ID: 2-166894372-C-G

NM_001165963.1(SCN1A):c.2860G>C;(p.E954Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Sodium channel SCN1A and epilepsy: mutations and mechanisms.

Epilepsia
Escayg, Andrew A; Goldin, Alan L AL
Publication Date: 2010-09

Variant appearance in text: SCN1A: E954Q
PubMed Link: 20831750
Variant Present in the following documents:
  • Main text
View BVdb publication page



A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation.

Neurobiology Of Disease
Tang, Bin B; Dutt, Karoni K; Papale, Ligia L; Rusconi, Raffaella R; Shankar, Anupama A; Hunter, Jessica J; Tufik, Sergio S; Yu, Frank H FH; Catterall, William A WA; Mantegazza, Massimo M; Goldin, Alan L AL; Escayg, Andrew A
Publication Date: 2009-07

Variant appearance in text: SMEI: E954Q
PubMed Link: 19409490
Variant Present in the following documents:
  • Main text
View BVdb publication page