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

Journal article

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

European Journal of Medical Genetics | ELSEVIER | Published : 2017

DOI: 10.1016/j.ejmg.2017.06.002

University of Melbourne Researchers

Melanie Bahlo Author Mathematics and Statistics

Rick Leventer Author Paediatrics Royal Children's Hospital

Saul Mullen Author Medical Education

Jeremy Silver Author Mathematics and Statistics

Ingrid Scheffer Author Medicine - Austin Health

Related Projects (2)

EPILEPSY: A 'PATIENT TO BENCH AND BACK TO PATIENT' PROGRAM ABOUT UNDERSTANDING THE CAUSES OF SEIZURE DISORDERS.

IMPLEMENTING PRECISION MEDICINE IN EPILEPSY

I aim to understand the genetics of the epilepsies. Through detailed analysis of different types of epilepsy, and associated features such a..

Grants

Awarded by NHMRC program

Awarded by NHMRC Research Fellowships

Awarded by NHMRC Practitioner Fellowship

Funding Acknowledgements

We wish to thank the family involved in this study for their kind participation in our research program. We are grateful to eResearchSA for computing infrastructure support. This project was supported by: NHMRC program grants 628952 (SB, JG, IS) and 1054618 (MB), NHMRC Research Fellowships 1041920 (JG) and 1002098 (MB); NHMRC Practitioner Fellowship 1104831 (IES), WCH foundation MS McLeod research fellowship (MC).