Annotation Detail
Information
- Associated Genes
- TP63
- Associated Variants
-
TP63 MUTATION
TP63 MUTATION - Associated Disease
- epilepsy
- Source Database
- DisGeNET
- Description
- The disruption of Nav β1 AIS expression by a human epilepsy-causing C121W genetic mutation in Nav β1 was also investigated using a mouse model.
- Pubmed
- 25421039
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs