Publications:

SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Frontiers In Neurology

Ding, Jiangwei J; Li, Xinxiao X; Tian, Haiyan H; Wang, Lei L; Guo, Baorui B; Wang, Yangyang Y; Li, Wenchao W; Wang, Feng F; Sun, Tao T

Publication Date: 2021

Variant appearance in text: SCN1A: 4246G>T

PubMed Link: 35002916

Variant Present in the following documents:

• Main text
• fneur-12-743726.pdf

View BVdb publication page

De novo mutations in SCN1A are associated with classic Rett syndrome: a case report.

Bmc Medical Genetics

Henriksen, Mari Wold MW; Ravn, Kirstine K; Paus, Benedicte B; von Tetzchner, Stephen S; Skjeldal, Ola H OH

Publication Date: 2018-10-11

Variant appearance in text: SCN1A: 4246G>T; Asp1416Tyr

PubMed Link: 30305042

Variant Present in the following documents:

• Main text
• 12881_2018_Article_700.pdf

View BVdb publication page