Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

Mark F Bennett; Karen L Oliver; Brigid M Regan; Susannah T Bellows; Amy L Schneider; Haloom Rafehi; Neblina Sikta; Douglas E Crompton; Matthew Coleman; Michael S Hildebrand; Mark A Corbett; Thessa Kroes; Jozef Gecz; Ingrid E Scheffer; Samuel F Berkovic; Melanie Bahlo

Journal article

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

Mark F Bennett, Karen L Oliver, Brigid M Regan, Susannah T Bellows, Amy L Schneider, Haloom Rafehi, Neblina Sikta, Douglas E Crompton, Matthew Coleman, Michael S Hildebrand, Mark A Corbett, Thessa Kroes, Jozef Gecz, Ingrid E Scheffer, Samuel F Berkovic, Melanie Bahlo

European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2020

DOI: 10.1038/s41431-020-0606-z

University of Melbourne Researchers

Melanie Bahlo Author Mathematics and Statistics

Ingrid Scheffer Author Medicine - Austin Health

Karen Oliver Broderick Author Medicine - Austin Health

Douglas Crompton Author Medical Education

Michael Hildebrand Author Medicine - Austin Health

Related Projects (1)

HUMAN EPILEPSY: UNDERSTANDING BIOLOGY TO IMPROVE OUTCOMES

Our team of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discovery of the gen..

Grants

Awarded by National Health and Medical Research Council (NHMRC)

Awarded by NHMRC

Funding Acknowledgements

MSH was supported by a National Health and Medical Research Council (NHMRC) Project Grant (1079058) and R. D. Wright Career Development Fellowship (1063799). MAC was supported by the Cerebral Palsy Alliance Research Foundation. JG was supported by NHMRC Senior Research Fellowship (1155224) and Program Grant (1091593). IES was supported by a NHMRC Program Grant (1091593) and Senior Practitioner Fellowship (1104831) and by the Health Research Council of New Zealand. SFB was supported by a NHMRC Program Grant (1091593) and Project Grant (1129054). MB was supported by a NHMRC Senior Research Fellowship (GNT1102971). This work was supported by the Victorian Government's Operational Infrastructure Support Program and the NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS).