De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
Iris M de Lange, Katherine L Helbig, Sarah Weckhuysen, Rikke S Møller, Milen Velinov, Natalia Dolzhanskaya, Eric Marsh, Ingo Helbig, Orrin Devinsky, Sha Tang, Heather C Mefford, Candace T Myers, Wim van Paesschen, Pasquale Striano, Koen van Gassen, Marjan van Kempen, Carolien G F de Kovel, Juliette Piard, Berge A Minassian, Marjan M Nezarati, André Pessoa, Aurelia Jacquette, Bridget Maher, Simona Balestrini, Sanjay Sisodiya, Marie Therese Abi Warde, Anne De St Martin, Jamel Chelly, EuroEPINOMICS-RES MAE working group, Ruben van ‘t Slot, Lionel Van Maldergem, Eva H Brilstra, Bobby P C Koeleman
Journal of Medical Genetics Dec 2016, 53 (12) 850-858; DOI: 10.1136/jmedgenet-2016-103909