Mutations in TNK2 in Severe Autosomal Recessive Infantile Onset Epilepsy
Yuki Hitomi, Erin L Heinzen, Simona Donatello, Hans-Henrik Dahl, John A Damiano, Jacinta M McMahon, Samuel F Berkovic, Ingrid E Scheffer, Benjamin Legros, Myriam Rai, Sarah Weckhuysen, Arvid Suls, Peter De Jonghe, Massimo Pandolfo, David B Goldstein, Patrick Van Bogaert, Chantal Depondt
ANNALS OF NEUROLOGY | WILEY | Published : 2013
Awarded by NIH National Institute of Neurological Diseases and Stroke
Awarded by Center for HIV/AIDS Vaccine Immunology under NIH National Institute of Allergy and Infectious Diseases
This study was funded by the NIH National Institute of Neurological Diseases and Stroke (1RC2NS070342-01, 5RC2NS070344-02); Division of Intramural Research, NIH National Institute of Allergy and Infectious Diseases; Center for HIV/AIDS Vaccine Immunology under a grant from the NIH National Institute of Allergy and Infectious Diseases (UO1AIO67854); National Health and Medical Research Council of Australia (program grant 2011-2015); and Fonds Erasme, Universite Libre de Bruxelles. A.S. is a postdoctoral fellow of the Fund for Scientific Research Flanders. We thank the NIH National Heart, Lung, and Blood Institute GO Exome Sequencing Project and its ongoing studies, which produced and provided exome variant calls for comparison: the Lung GO Sequencing Project (HL-102923), the WHI Sequencing Project (HL-102924), the Broad GO Sequencing Project (HL-102925), the Seattle GO Sequencing Project (HL-102926), and the Heart GO Sequencing Project (HL-103010); the patients and their families for participating in this research; the Epigen Consortium for making their samples available for genotyping: Drs S. Sisodiya, N. Delanty, and G. Cavalleri; and the following individuals for the contributions of control samples: Dr J. Hoover-Fong, Dr N. L. Sobreira, Dr D. Valle, D. H. Murdock and the MURDOCK Study Community Registry and Biorepository, Dr E. J. Holtzman, Dr D. Koltai Attix, V. Dixon, Dr V. Shashi, Dr W. L. Lowe, Dr S. M. Palmer, Dr D. Marchuk, Dr Z. Farfel, Dr D. Lancet, Dr E. Pras, Dr J. Milner, Dr D. Daskalakis, Dr R. Gbadegesin, Dr M. Winn, A. Holden, Dr E. Behr, Dr R. H. Brown Jr, Dr S. Kerns, Dr H. Oster, and Dr M. Abramowicz.