Journal article

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

Michael S Hildebrand, Nicole G Griffin, John A Damiano, Elisa J Cops, Rosemary Burgess, Ezgi Ozturk, Nigel C Jones, Richard J Leventer, Jeremy L Freeman, A Simon Harvey, Lynette G Sadleir, Ingrid E Scheffer, Heather Major, Benjamin W Darbro, Andrew S Allen, David B Goldstein, John F Kerrigan, Samuel F Berkovic, Erin L Heinzen

The American Journal of Human Genetics | CELL PRESS | Published : 2016


Awarded by National Health and Medical Research Council (NHMRC)

Awarded by Australian Research Council

Funding Acknowledgements

We thank the families for their participation in this study, and we value the advocacy from the Hope for Hypothalamic Hamartoma Foundation ( Elena Aleksoska (Epilepsy Research Centre) performed genomic DNA extractions from tissues. Brett Copeland, Joshua Bridgers, and Sitharthan Kamalakaran (Institute for Genomic Medicine) provided bioinformatics support. Dr. Paul Lockhart, Greta Gillies, and Kate Pope (Murdoch Childrens Research Institute) assisted with collection of tissue, and Jeffrey Rosenfeld and Wirginia Maixner (Royal Children's Hospital, Melbourne) performed surgeries. This study was supported by a National Health and Medical Research Council (NHMRC) Program Grant (628952) to S.F.B. and I.E.S., a Practitioner Fellowship (1006110) to I.E.S, and a Career Development Fellowship (1063799) to M.S.H. I.E.S. was also funded by grants from the NIH, Australian Research Council, Health Research Council of New Zealand, CURE, American Epilepsy Society, US Department of Defense Autism Spectrum Disorder Research Program, March of Dimes, and Perpetual Charitable Trustees. E.L.H. was supported by a NIH grant (R21-NS078657). N.C.J. was supported by an Australian Research Council Future Fellowship (13100100). Acknowledgments of individuals and funding sources responsible for the samples used in this study as controls are provided in the Supplemental Data.