SCN1A c.2594_2595delinsAT ;(p.R865H)

Variant ID: 2-166894637-TC-AT

NM_001165963.1(SCN1A):c.2594_2595delinsAT;(p.R865H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation.

The Journal Of General Physiology
Volkers, Linda L; Kahlig, Kristopher M KM; Das, Joost H G JH; van Kempen, Marjan J A MJ; Lindhout, Dick D; Koeleman, Bobby P C BP; Rook, Martin B MB
Publication Date: 2013-12

Variant appearance in text: SCN1A: R865H
PubMed Link: 24277604
Variant Present in the following documents:
  • Main text
  • JGP_201311042.pdf
View BVdb publication page