Sound Triggers Severe Seizures in CDKL5 Deficient Mice

Source: Epilepsia open

Summary

Researchers studied a genetic condition called CDKL5 deficiency disorder (CDD) using mice that lack the CDKL5 gene. They wanted to see if these mice were more likely to have seizures triggered by loud sounds, known as audiogenic seizures. The study included adult male mice without the CDKL5 gene, female mice with one copy of the gene, and normal mice with both copies.

The key finding was that male mice lacking the CDKL5 gene had a high chance of experiencing severe seizures when exposed to loud sounds, with 80% of them having lethal seizures. In contrast, the female mice with one copy of the gene and the normal mice were mostly unaffected, with 92% of them surviving the sound exposure. Additionally, some of the male mice showed spontaneous seizures during monitoring, indicating they could have ongoing seizure issues.

This research is important because it shows that sound-triggered seizures are a significant problem for mice with CDKL5 deficiency, which can help scientists understand the condition better. It also provides a new way to test potential treatments for seizures in CDD. However, since this study was done on mice, more research is needed to see how these findings apply to humans with the condition.

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