Genetic Susceptibility to Febrile Seizures

Project Details

Febrile seizures (FS) is the most common seizure syndrome that can lead to epilepsy later in life.  Mutations in the sodium channel subunit gene SCN1A can give rise to FS but also to epilepsies such as Dravet syndrome. Current evidence suggests genetic factors play an important role in determining FS susceptibility. Recently we have shown that deficiency for Zn2+ at the synapse, due to variants in the only known synaptic zinc transporter ZNT3, is another mechanism that confers susceptibility to FS (Figure 5). Our laboratory has a strong interest in discovering and characterising other FS susceptibility genes.

A mechanistic model explaining the basis of increased excitability due to low synaptic Zn2+ leading to increased FS susceptibility. Adapted from Reid et al 2016 Br J Pharmacol.

Researchers

  • Dr Michael Hildebrand BBiomed Sci, BSc (Hons), PhD - Laboratory Head
  • John Damiano BSc (Hons) - Senior Research Assistant
  • Amelia McGlade BSc (Hons) - Senior Research Assistant
  • Kristin Rigbye, BSc (Hons) 
  • Rebekah Stubbs, BSc, Grad Dip - Technical Assistant

Collaborators

  • A/Prof Angela Morgan, Murdoch Children's Research Institute
  • Prof Melanie Bahlo, Walter and Eliza Hall Institute
  • Prof Patrick Kwan, Royal Melbourne Hospital
  • A/Prof Heather Mefford, University of Washington

Funding

  1. Sir Edward Dunlop Medical Research Foundation Grant 2016, Zinc and seizures, Epilepsy Research Centre, University of Melbourne, Australia ($20,000 AUD) CIA: Dr. Michael S Hildebrand.

Research Opportunities

This research project is available to PhD, Masters, Honours students to join as part of their thesis.
Please contact the Research Group Leader to discuss your options.

Research Outcomes

  1. Reid CA, Hildebrand MS, Mullen SA, Hildebrand JM, Berkovic SF, Petrou S. Synaptic Zn(2+) and febrile seizure susceptibility. Br J Pharmacol. 2016 Oct 23. [Epub ahead of print] Review.  
  2. Hildebrand MS, Phillips AM, Mullen SA, Adlard PA, Hardies K, Damiano JA, Wimmer V, Bellows ST, McMahon JM, Burgess R, Hendrickx R, Weckhuysen S, Suls A,De Jonghe P, Scheffer IE, Petrou S, Berkovic SF, Reid CA. Loss of synaptic Zn2+ transporter function increases risk of febrile seizures. Sci Rep. 2015 5:17816.

Research Group




Key Contact

For further information about this research, please contact the research group leader.

Department / Centre

Medicine and Radiology