Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum

Karl Martin Klein; Terence J O'Brien; Kavita Praveen; Sarah E Heron; John C Mulley; Simon Foote; Samuel F Berkovic; Ingrid E Scheffer

Journal article

Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum

Karl Martin Klein, Terence J O'Brien, Kavita Praveen, Sarah E Heron, John C Mulley, Simon Foote, Samuel F Berkovic, Ingrid E Scheffer

Epilepsia | WILEY-BLACKWELL | Published : 2012

DOI: 10.1111/j.1528-1167.2012.03585.x

University of Melbourne Researchers

Ingrid Scheffer Author Medicine - Austin Health

Terry O'Brien Author Medicine - Royal Melbourne Hospital

Sam Berkovic Author Medicine - Austin Health

Related Projects (3)

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

The team is comprised of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discove..

NHMRC Australia Fellowship

I aim to cement my place as the leading clinical and translational researcher in epilepsy internationally. My research and that of my wider ..

Grants

Awarded by National Health and Medical Research Council of Australia

Awarded by Deutsche Forschungsgemeinschaft

Funding Acknowledgements

We thank the families for participation in our study and Dr. Kathryn Friend for assistance with calculation of LOD scores. The study was supported by the National Health and Medical Research Council of Australia (Program Grant 628952 to SFB, IES, Australia Fellowship 466671 to SFB, Practitioner Fellowship 1006110 to IES and Training Fellowship 1016715 to SEH) and SA Pathology. KMK was supported by a research fellowship from the Deutsche Forschungsgemeinschaft (KL 2254/1-1) and a scholarship from The University of Melbourne.