Using Frog Eggs To Research Epilepsy?! - Valentina Galassi Deforie, UCL, UK
Podcast:
Valentina Galassi Deforie, a final year Ph.D. student of the UCL Neurogenetics Lab, speaks of using frog eggs to research the epilepsies and some new mutations discovered - e.g. those of the KCNA6 and NARS1 genes!
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Intro
Using frog eggs to study KCNA6 variants
Results summary & next steps using animal models
Value of the research & genetic sequencing
Second epilepsy project re the NARS1 gene - with Stephanie Efthymiou
Cross-disciplinary collaborations improving research
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Valentina Galassi Deforie is a final year Ph.D. student on the BBSRC LIDo (London Interdisciplinary Doctoral Programme) based at the Institute of Neurology at UCL. Her main project investigates novel mutations in the gene KCNA6 in individuals affected with neurodevelopmental disorders and seizures. Her research uses frog eggs as a method to understand the functional implications that the mutations have on the protein that this gene encodes: Voltage Gated Potassium Channel 1.6 (Kv1.6).
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LinkedIn: linkedin.com/in/valentina-galassi-deforie
Profile & publications: UCL Iris
Lab: Neurogenetics Lab
Paper mentioned: Epilepsia
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Twitter: Stephanie Efthymiou
Profile & Publications: UCL Iris
NARS1 Gene Disorder Support Group (Facebook): facebook.com/groups/176591497885827
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Henry Holden: UCL | ResearchGate
Roope Mannikko: UCL | ResearchGate | Channelopathy NHS
Mark Caulfield: Queen Mary University of London | ResearchGate
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Helplines, email address, and website for Ukrainians seeking Anti-Seizure Medications.