Article
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
American journal of human genetics - 2 Nov 2017
Küry Sébastien, van Woerden Geeske M, Besnard Thomas, Proietti Onori Martina, Latypova Xénia, Towne Meghan C, Cho Megan T, Prescott Trine E, Ploeg Melissa A, Sanders Stephan, Stessman Holly A F, Pujol Aurora, Distel Ben, Robak Laurie A, Bernstein Jonathan A, Denommé-Pichon Anne-Sophie, Lesca Gaëtan, Sellars Elizabeth A, Berg Jonathan, Carré Wilfrid, Busk Øyvind Løvold, van Bon Bregje W M, Waugh Jeff L, Deardorff Matthew, Hoganson George E, Bosanko Katherine B, Johnson Diana S, Dabir Tabib, Holla Øystein Lunde, Sarkar Ajoy, Tveten Kristian, de Bellescize Julitta, Braathen Geir J, Terhal Paulien A, Grange Dorothy K, van Haeringen Arie, Lam Christina, Mirzaa Ghayda, Burton Jennifer, Bhoj Elizabeth J, Douglas Jessica, Santani Avni B, Nesbitt Addie I, Helbig Katherine L, Andrews Marisa V, Begtrup Amber, Tang Sha, van Gassen Koen L I, Juusola Jane, Foss Kimberly, Enns Gregory M, Moog Ute, Hinderhofer Katrin, Paramasivam Nagarajan, Lincoln Sharyn, Kusako Brandon H, Lindenbaum Pierre, Charpentier Eric, Nowak Catherine B, Cherot Elouan, Simonet Thomas, Ruivenkamp Claudia A L, Hahn Sihoun, Brownstein Catherine A, Xia Fan, Schmitt Sébastien, Deb Wallid, Bonneau Dominique, Nizon Mathilde, Quinquis Delphine, Chelly Jamel, Rudolf Gabrielle, Sanlaville Damien, Parent Philippe, Gilbert-Dussardier Brigitte, Toutain Annick, Sutton Vernon R, Thies Jenny, Peart-Vissers Lisenka E L M, Boisseau Pierre, Vincent Marie, Grabrucker Andreas M, Dubourg Christèle, Tan Wen-Hann, Verbeek Nienke E, Granzow Martin, Santen Gijs W E, Shendure Jay, Isidor Bertrand, Pasquier Laurent, Redon Richard, Yang Yaping, State Matthew W, Kleefstra Tjitske, Cogné Benjamin, Petrovski Slavé, Retterer Kyle, Eichler Evan E, Rosenfeld Jill A, Agrawal Pankaj B, Bézieau Stéphane, Odent Sylvie, Elgersma Ype, Mercier Sandra
Abstract excerpt
Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown to be essential for normal learning and synaptic plasticity in mice, but its requirement for human brain development has not yet been established. Through a multi-center collaborative study based on a whole-exome sequencing approach, we identified 19 exceedingly rare de novo CAMK2A or CAMK2B variants in 24 unrelated...
