Journal article

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Gemma L Carvill, Jacinta M McMahon, Amy Schneider, Matthew Zemel, Candace T Myers, Julia Saykally, John Nguyen, Angela Robbiano, Federico Zara, Nicola Specchio, Oriano Mecarelli, Robert L Smith, Richard J Leventer, Rikke S Moller, Marina Nikanorova, Petia Dimova, Albena Jordanova, Steven Petrou, Ingo Helbig, Pasquale Striano Show all

The American Journal of Human Genetics | CELL PRESS | Published : 2015


Awarded by NIH

Awarded by Bulgarian Ministry of Education and Science National Science Fund

Awarded by University of Antwerp

Awarded by German Research Foundation

Funding Acknowledgements

G.L.C. and I.H. are members of the scientific advisory board of Ambry Genetics. We are grateful to Angelika Ackerhans and Kerstin Wuhlbrandt (Department of Neuropediatrics, University of Kiel) for database and sample management. We appreciate access to phenotypic data on SFARI Base, and we are grateful to all of the families at the participating Simons Simplex Collection (SSC) sites, as well as the principal investigators. This research was supported by the NIH (NINDS 1R01NS069605 to H.C.M.; 1K99NS089858 to G.L.C.), the American Epilepsy Society and the Lennox and Lombroso Fund (G.L.C.), the National Health and Medical Research Council of Australia (S.F.B. and I.E.S.), the Bulgarian Ministry of Education and Science National Science Fund (grant DTK02/67), the Research Fund of the University of Antwerp (grant TOP-BOF-29069 to A.J.). Intramural funds from the University of Kiel and the German Research Foundation (HE5415/5-1 and HE5415/6-1) further supported I.H. Additional funding sources are listed in the Supplemental Data.