SCN1A c.4913T>C ;(p.I1638T)

Variant ID: 2-166848872-A-G

NM_001165963.1(SCN1A):c.4913T>C;(p.I1638T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: I1638T
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: SCN1A: I1638T
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



Audit of use of stiripentol in adults with Dravet syndrome.

Acta Neurologica Scandinavica
Balestrini, S S; Sisodiya, S M SM
Publication Date: 2017-01

Variant appearance in text: SCN1A: 4913T>C
PubMed Link: 27231140
Variant Present in the following documents:
  • Main text
  • ANE-135-73.pdf
View BVdb publication page



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: 4913T>C
PubMed Link: 21719429
Variant Present in the following documents:
  • Main text
  • awr129.pdf
View BVdb publication page