IMPLEMENTING PRECISION MEDICINE IN EPILEPSY
Grant number: 1104831 | Funding period: 2016 - 2020
I aim to understand the genetics of the epilepsies. Through detailed analysis of different types of epilepsy, and associated features such as intellectual disability and autism, I will describe new epilepsy syndromes, and together with gene discovery, implement novel targeted therapies. This translational program will transform clinical practice by informing diagnosis, prognostic and genetic counseling, and lead to targeted precision therapies to improve outcomes for each patient.
Related publications (14)
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures
Rosemary Burgess, Shuyu Wang, Amy McTague, Katja E Boysen, Xiaoling Yang, Qi Zeng, Kenneth A Myers, Anne Rochtus, Marina Trivisano, Deepak Gill, Lynette G Sadleir, Nicola Specchio, Renzo Guerrini, Carla Marini, Yue-Hua Zhang, Heather C Mefford, Manju A Kurian, Annapurna H Poduri, Ingrid E Scheffer
OBJECTIVE: Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe developmental and epileptic encepha..
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.
Tyson L Ware, Shannon R Huskins, Bronwyn E Grinton, Yu-Chi Liu, Mark F Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos-Malikotsinas, Melanie Bahlo, Katherine B Howell, Michael S Hildebrand, John A Damiano, Alexander Rosenfeld, Mark T Mackay, Simone Mandelstam, Richard J Leventer, A Simon Harvey, Jeremy L Freeman, Ingrid E Scheffer, Dean L Jones
We sought to determine incidence, etiologies, and yield of genetic testing in infantile onset developmental and epileptic encephal..
Dorsal language stream anomalies in an inherited speech disorder
Frederique J Liegeois, Samantha J Turner, Angela Mayes, Alexandra F Bonthrone, Amber Boys, Libby Smith, Bronwyn Parry-Fielder, Simone Mandelstam, Megan Spencer-Smith, Melanie Bahlo, Tom S Scerri, Michael S Hildebrand, Ingrid E Scheffer, Alan Connelly, Angela T Morgan
Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection
Mark J Cowley, Yu-Chi Liu, Karen L Oliver, Gemma Carvill, Candace T Myers, Velimir Gayevskiy, Martin Delatycki, Danique RM Vlaskamp, Ying Zhu, Heather Mefford, Michael F Buckley, Melanie Bahlo, Ingrid E Scheffer, Marcel E Dinger, Tony Roscioli
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations
Mark A Corbett, Samantha J Turner, Alison Gardner, Jeremy Silver, Jim Stankovich, Richard J Leventer, Christopher P Derry, Renee Carroll, Thuong Ha, Ingrid E Scheffer, Melanie Bahlo, Graeme D Jackson, David A Mackey, Samuel F Berkovic, Jozef Gecz
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy
Mark A Corbett, Susannah T Bellows, Melody Li, Renee Carroll, Silvana Micallef, Gemma L Carvill, Candace T Myers, Katherine B Howell, Snezana Maljevic, Holger Lerche, Elena V Gazina, Heather C Mefford, Melanie Bahlo, Samuel F Berkovic, Steven Petrou, Ingrid E Scheffer, Jozef Gecz