De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Silke Appenzeller; Rudi Balling; Nina Barisic; Stephanie Baulac; Hande Caglayan; Dana Craiu; Peter De Jonghe; Christel Depienne; Petia Dimova; Tania Djemie; Padhraig Gormley; Renzo Guerrini; Ingo Helbig; Helle Hjalgrim; Dorota Hoffman-Zacharska; Johanna Jaehn; Karl Martin Klein; Bobby Koeleman; Vladimir Komarek; Roland Krause; Gregor Kuhlenbaeumer; Eric Leguern; Anna-Elina Lehesjoki; Johannes R Lemke; Holger Lerche; Tarja Linnankivi; Carla Marini; Patrick May; Rikke S Moller; Hiltrud Muhle; Deb Pal; Aarno Palotie; Manuela Pendziwiat; Angela Robbiano; Filip Roelens; Felix Rosenow; Kaja Selmer; Jose M Serratosa; Sanjay Sisodiya; Ulrich Stephani; Katalin Sterbova; Pasquale Striano; Arvid Suls; Tiina Talvik; Sarah von Spiczak; Yvonne Weber; Sarah Weckhuysen; Federico Zara; Bassel Abou-Khalil; Brian K Alldredge; Eva Andermann; Frederick Andermann; Dina Amron; Jocelyn F Bautista; Samuel F Berkovic; Judith Bluvstein; Alex Boro; Gregory Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Kevin Haas; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack Parent; Kristen Park; Annapurna Poduri; Lynette Sadleir; Ingrid E Scheffer; Renee A Shellhaas; Elliott Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joe Sullivan; Liu Lin Thio; Anu Venkat; Eileen PG Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer; Andrew S Allen; Samuel F Berkovic; Patrick Cassette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Stephen Petrou; Slave Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott Sherr

Journal article

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Silke Appenzeller, Rudi Balling, Nina Barisic, Stephanie Baulac, Hande Caglayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Petia Dimova, Tania Djemie, Padhraig Gormley, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jaehn, Karl Martin Klein, Bobby Koeleman, Vladimir Komarek, Roland Krause Show all

American Journal of Human Genetics | CELL PRESS | Published : 2014

DOI: 10.1016/j.ajhg.2014.08.013

University of Melbourne Researchers

Slave Petrovski Author Medicine - Austin Health

Ingrid Scheffer Author Medicine - Austin Health

Terry O'Brien Author Medicine and Radiology

Sam Berkovic Author Medicine - Austin Health

Grants

Awarded by National Institute of Neurological Disorders and Stroke (The Epilepsy Phenome/Genome Project)

Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

Funding Acknowledgements

This work was supported by grants from the National Institute of Neurological Disorders and Stroke (The Epilepsy Phenome/Genome Project NS053998; Epi4K NS077364, NS077274, NS077303, and NS077276), The Andrew's Foundation, Finding a Cure for Epilepsy and Seizures, the Richard Thalheimer Philanthropic Fund, and the Eurocores program EuroEPINOMICS-RES of the European Science Foundation. Additional funding sources are summarized in the Supplemental Acknowledgments. The sponsors of the study had no role in study design, data collection, data analysis, data interpretation, or writing of the report.