Annotation Detail

Information
Associated Genes
CACNA1A
Associated Variants
CACNA1A MUTATION
CACNA1A MUTATION
Associated Disease
absence epilepsy
Source Database
DisGeNET
Description
Thus, the tottering-6j mouse is a useful model for studying Cav2.1 channel functions and Cacna1a-related diseases, including absence epilepsy.
Pubmed
26002462
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
6
Original source reporting the Gene Disease association
BeFree,CTD_human,RGD
DisGENET score for the Gene Disease association
0.201628651232482
Drugs