SCN1A c.2717_2727delinsAC ;(p.V906_M909delinsD)

Variant ID: 2-166894505-CATGCCGACCA-GT

NM_001165963.1(SCN1A):c.2717_2727delinsAC;(p.V906_M909delinsD)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.

Brain : A Journal Of Neurology
Catarino, Claudia B CB; Liu, Joan Y W JY; Liagkouras, Ioannis I; Gibbons, Vaneesha S VS; Labrum, Robyn W RW; Ellis, Rachael R; Woodward, Cathy C; Davis, Mary B MB; Smith, Shelagh J SJ; Cross, J Helen JH; Appleton, Richard E RE; Yendle, Simone C SC; McMahon, Jacinta M JM; Bellows, Susannah T ST; Jacques, Thomas S TS; Zuberi, Sameer M SM; Koepp, Matthias J MJ; Martinian, Lillian L; Scheffer, Ingrid E IE; Thom, Maria M; Sisodiya, Sanjay M SM
Publication Date: 2011-10

Variant appearance in text: SCN1A: 2717_2727delinsAC
PubMed Link: 21719429
Variant Present in the following documents:
  • Main text
  • awr129.pdf
View BVdb publication page