What can tadpoles teach us about rare genetic epilepsy?
Developmental and epileptic encephalopathies (DEE) are a recently described, diverse and understudied group of disorders characterised by the onset of unrelenting seizures very early in life, and associated developmental impacts. They are mainly caused by de novo missense genetic variants, and over 100 genes are implicated.Quality of life, development and life span are significantly impacted in patients, and functional studies are often lacking.
Together with collaborators Prof Lynette Sadleir (Epilepsy Research Group, UoO Wellington) and Dr. Paul Szyszka (Zoology), we have been aiming to develop and test pre-clinical models of DEE using Xenopus tadpoles. With funding from the Neurological Foundation, we have been able to replicate seizure activity in both loss and gain-of-function mutations modelled on variants found in NZ patients with DEE.
I will talk about strategies, phenotyping, electrophysiology, drug testing and our future hopes for this research.
Zoom details
https://otago.zoom.us/j/97756704741?pwd=dHJNSW00dkFSdTk2VW1oSVlqOEJsUT09
Meeting ID: 977 5670 4741
Password: bioc
| Date | Tuesday, 18 October 2022 |
|---|---|
| Time | 12:00pm - 1:00pm |
| Audience | Postgraduate students,Undergraduate students,Staff |
| Event Type |
Seminar Online and in-person |
| Campus | Dunedin |
| Department | Biochemistry |
| Location | Via Zoom and Biochemistry Seminar Room G.13 (BIG13), Dunedin |
| Cost | Free |
| Contact Name | Department of Biochemistry |
| Contact Email | biochemistry@otago.ac.nz |
