IQSEC2 mutation associated with epilepsy, intellectual disability, and autism results in hyperexcitability of patient-derived neurons and deficient synaptic transmission von Brant, Boris, Stern, Tchelet, Shekhidem, Huda Adwan, Mizrahi, Liron, Rosh, Idan, Stern, Yam, Ofer, Polina, Asleh, Ayat, Umanah, George K. Essien, Jada, Reem, Levy, Nina S., Levy, Andrew P., Stern, Shani

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A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy von Piard, Juliette, Umanah, George K Essien, Harms, Frederike L, Abalde-Atristain, Leire, Amram, Daniel, Chang, Melissa, Chen, Rong, Alawi, Malik, Salpietro, Vincenzo, Rees, Mark I, Chung, Seo-Kyung, Houlden, Henry, Verloes, Alain, Dawson, Ted M, Dawson, Valina L, Van Maldergem, Lionel, Kutsche, Kerstin

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Mss51 deletion enhances muscle metabolism and glucose homeostasis in mice von Rovira Gonzalez, Yazmin I, Moyer, Adam L, LeTexier, Nicolas J, Bratti, August D, Feng, Siyuan, Sun, Congshan, Liu, Ting, Mula, Jyothi, Jha, Pankhuri, Iyer, Shama R, Lovering, Richard M, O'Rourke, Brian, Noh, Hye Lim, Suk, Sujin, Kim, Jason K, Essien Umanah, George K, Wagner, Kathryn R

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Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation von Piard, Juliette, Essien Umanah, George K, Harms, Frederike L, Abalde-Atristain, Leire, Amram, Daniel, Chang, Melissa, Chen, Rong, Alawi, Malik, Salpietro, Vincenzo, Rees, Mark I, Chung, Seo-Kyung, Houlden, Henry, Verloes, Alain, Dawson, Ted M, Dawson, Valina L, Van Maldergem, Lionel, Kutsche, Kerstin

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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly von Serey-Gaut, Margaux, Cortes, Marisol, Makrythanasis, Periklis, Suri, Mohnish, Taylor, Alexander M.R., Sullivan, Jennifer A., Asleh, Ayat N., Mitra, Jaba, Dar, Mohamad A., McNamara, Amy, Shashi, Vandana, Dugan, Sarah, Song, Xiaofei, Rosenfeld, Jill A., Cabrol, Christelle, Iwaszkiewicz, Justyna, Zoete, Vincent, Pehlivan, Davut, Akdemir, Zeynep Coban, Roeder, Elizabeth R., Littlejohn, Rebecca Okashah, Dibra, Harpreet K., Byrd, Philip J., Stewart, Grant S., Geckinli, Bilgen B., Posey, Jennifer, Westman, Rachel, Jungbluth, Chelsy, Eason, Jacqueline, Sachdev, Rani, Evans, Carey-Anne, Lemire, Gabrielle, VanNoy, Grace E., O’Donnell-Luria, Anne, Mau-Them, Frédéric Tran, Juven, Aurélien, Piard, Juliette, Nixon, Cheng Yee, Zhu, Ying, Ha, Taekjip, Buckley, Michael F., Thauvin, Christel, Essien Umanah, George K., Van Maldergem, Lionel, Lupski, James R., Roscioli, Tony, Dawson, Valina L., Dawson, Ted M., Antonarakis, Stylianos E.

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