@article{kury:inserm-01813739,
TITLE = {De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability},
AUTHOR = {K{\"u}ry, S{\'e}bastien and van Woerden, Geeske M and Besnard, Thomas and Onori, Martina Proietti and Latypova, X{\'e}nia and Towne, Meghan C and Cho, Megan T and Prescott, Trine E and Ploeg, Melissa A and Sanders, Stephan J. and Stessman, Holly A.F. and Pujol, Aurora and Distel, Ben and Robak, Laurie A and Bernstein, Jonathan A. and Denomm{\'e}-Pichon, Anne-Sophie and Lesca, Ga{\"e}tan and Sellars, Elizabeth A and Berg, Jonathan and Carr{\'e},
Wilfrid and Busk, {\O}yvind L{\o}vold and van Bon, Bregje W.M. and Waugh, Jeff L and Deardorff, Matthew A. and Hoganson, George E and Bosanko, Katherine B and Johnson, Diana S. and Dabir, Tabib and Lunde Holla, {\O}ystein and Sarkar, Ajoy and Tveten, Kristian and de Bellescize, Julitta and Braathen, Geir J. and Terhal, Paulien A and Grange, Dorothy K and van Haeringen, Arie and Lam, Christina and Mirzaa, Ghayda and Burton, Jennifer and Bhoj, Elizabeth J. and Douglas, Jessica and Santani, Avni B. and Nesbitt, Addie I. and Helbig, Katherine L. and Andrews, Marisa V. and Begtrup, Amber and Tang, Sha and van Gassen, Koen L.I. and Juusola, Jane and Foss, Kimberly and Enns, Gregory M. and Moog, Ute and Hinderhofer, Katrin and Paramasivam, Nagarajan and Lincoln, Sharyn and Kusako, Brandon H. and Lindenbaum, Pierre and Charpentier, Eric and Nowak, Catherine B. and Cherot, Elouan and Simonet, Thomas and Ruivenkamp, Claudia A.L. and Hahn, Sihoun and Brownstein, Catherine A. and Xia, Fan and Schmitt, S{\'e}bastien and Deb, Wallid and Bonneau, Dominique and Nizon, Mathilde and Quinquis, Delphine and Chelly, Jamel and Rudolf, Gabrielle and Sanlaville, Damien and Parent, Philippe and Gilbert-Dussardier, Brigitte and Toutain, Annick and Sutton, Vernon R. and Thies, Jenny and Peart-Vissers, Lisenka E.L.M. and Boisseau, Pierre and Vincent, Marie and Grabrucker, Andreas M. and Dubourg, Christ{\`e}le and Diseases Network, Undiagnosed and Tan, Wen-Hann and Verbeek, Nienke E. and Granzow, Martin and Santen, Gijs W.E. and Shendure, Jay and Isidor, Bertrand and Pasquier, Laurent and Redon, Richard and Yang, Yaping and State, Matthew W. and Kleefstra, Tjitske and Cogn{\'e},
Benjamin and Hugo, Gem and Study, Deciphering Developmental Disorders and Petrovski, Slav{\'e} and Retterer, Kyle and Eichler, Evan E. and Rosenfeld, Jill A. and Agrawal, Pankaj B. and B{\'e}zieau, St{\'e}phane and Odent, Sylvie and Elgersma, Ype and Mercier, Sandra},
URL = {https://inserm.hal.science/inserm-01813739},
JOURNAL = {American Journal of Human Genetics},
PUBLISHER = {Elsevier (Cell Press)},
VOLUME = {101},
NUMBER = {5},
PAGES = {768 - 788},
YEAR = {2017},
MONTH = Nov, DOI = {10.1016/j.ajhg.2017.10.003},
KEYWORDS = {NMDAR ; CAMK2B ; CAMK2 ; de novo mutations ; intellectual disability ; synaptic plasticity ; AMPAR ; CAMK2A},
PDF = {https://inserm.hal.science/inserm-01813739/file/main_Bezieau2018Eq1.pdf},
HAL_ID = {inserm-01813739},
HAL_VERSION = {v1},
}