Publications by authors named "Lauren E Bowser"
Article Synopsis
- Mutations in the NPRL3 gene, linked to epilepsy and brain development issues, were studied in a Mennonite community, revealing a 28% rate of epilepsy with diverse clinical symptoms.*
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- Researchers used CRISPR/Cas9 to knock out Nprl3 in mouse brain cells, finding that its absence leads to excessive mTOR pathway activation and abnormal cell behavior, which can be mitigated by mTOR inhibitors.*
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- No specific genetic modifiers were identified that could explain the variability in seizure occurrence among the subjects, indicating that NPRL3 plays a significant role in mTOR signaling and potential epilepsy mechanisms.*
