A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

Mark A Corbett; Melanie Bahlo; Lachlan Jolly; Zaid Afawi; Alison E Gardner; Karen L Oliver; Stanley Tan; Amy Coffey; John C Mulley; Leanne M Dibbens; Walid Simri; Adel Shalata; Sara Kivity; Graeme D Jackson; Samuel F Berkovic; Jozef Gecz

Journal article

A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

Mark A Corbett, Melanie Bahlo, Lachlan Jolly, Zaid Afawi, Alison E Gardner, Karen L Oliver, Stanley Tan, Amy Coffey, John C Mulley, Leanne M Dibbens, Walid Simri, Adel Shalata, Sara Kivity, Graeme D Jackson, Samuel F Berkovic, Jozef Gecz

American Journal of Human Genetics | CELL PRESS | Published : 2010

DOI: 10.1016/j.ajhg.2010.08.001

University of Melbourne Researchers

Melanie Bahlo Author Mathematics and Statistics

Karen Oliver Broderick Author Medicine - Austin Health

Graeme Jackson Author Florey Department of Neuroscience and Mental Health

Sam Berkovic Author Medicine - Austin Health

Related Projects (1)

Epilepsy: Molecular basis and mechanisms in the era of functional genomics

The team comprises of neurologists with a special interest in epilepsy (both adult and child) molecular geneticists, physiologists and brain..

Grants

Awarded by National Health and Medical Research Council (NHMRC)

Funding Acknowledgements

We are grateful for the cooperation of the family involved in this study, as well as to Bev Johns for technical assistance and Rob King, Andre Rickers, and Graeme Woolford from Gene Works for help with the resequencing. M.B. and J.G. were supported by the National Health and Medical Research Council (NH&MRC) with a Career Development Award and a Principal Research Fellowship, respectively. This project was supported by NH&MRC program grant 400121 and also by International Science Linkages, established under the Australian Government's innovation statement, "Backing Australia's Ability."