Cacna1q is a genetic modifier of epilepsy in a mouse model of Dravet syndrome

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(Calhoun, et al. 2017) There are several different mouse models for Dravet syndrome, and researchers have shown that the same disease-causing mutation can present differently depending on which strain of mouse is used in breeding. This suggests there may be genetic modifiers that influence the severity of Dravet syndrome. The authors of this article had previously described Cacna1g as a modifier in an Scn2a transgenic epilepsy mouse model (another sodium ion channel disorder that is distinct from Dravet syndrome) and note in this study that mice with Scn1a mutations with decreased Cacna1g expression had improved survival and fewer spontaneous seizures. They were, however, still just as susceptible to seizures induced by elevated temperatures. Increasing Cacna1g expression did not affect seizures in the Scn1a positive mice.

Calhoun JD, Hawkins NA, Zachwieja NJ, Kearney JA. Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome. Epilepsia. 2017 May 28. doi: 10.1111/epi.13811. [Epub ahead of print] PubMed PMID: 28556246.
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