Publication
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy
Rebecca Buchert, Martin D. Burkhalter, Chrisovalantou Huridou, Linda Sofan, Timo Roser, Kirsten Cremer, Javeria Raza Alvi, Stephanie Efthymiou, Tawfiq Froukh, Sughra Gulieva, Ulviyya Guliyeva, Moath Hamdallah, Muriel Holder-Espinasse, Rauan Kaiyrzhanov, Doreen Klingler, Mahmoud Koko, Lars Matthies, Joohyun Park, Marc Sturm, Ana Velic, Stephanie Spranger, Tipu Sultan, Hartmut Engels, Holger Lerche, Henry Houlden, Alistair T. Pagnamenta, Ingo Borggraefe, Yvonne Weber, Penelope E. Bonnen, Reza Maroofian, Olaf Riess, Jonasz J. Weber, Melanie Philipp, Tobias B. Haack
The American Journal of Human Genetics, February 2025, Elsevier
DOI: 10.1016/j.ajhg.2024.12.019