De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

Elizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, Mais O Hashem, Fajr A Aleisa, Heba Ahmed, Tejaswi Kandula, Rebecca Macintosh, Andre E Minoche, Clare Puttick, Velimir Gayevskiy, Alexander P Drew, Mark J Cowley, Marcel Dinger, Jill A Rosenfeld, Rui Xiao, Megan T Cho, Suliat F Yakubu, Lindsay B Henderson, Maria J Guillen SacotoAmber Begtrup, Muddathir Hamad, Marwan Shinawi, Marisa V Andrews, Marilyn C Jones, Kristin Lindstrom, Ruth E Bristol, Saima Kayani, Molly Snyder, María Mercedes Villanueva, Angeles Schteinschnaider, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Tony Roscioli, Edwin P Kirk, Ann Bye, Jasmeen Merzaban, Lukasz Jaremko, Mariusz Jaremko, Rani K Sachdev, Fowzan S Alkuraya, Stefan T. Arold

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Medicine & Life Sciences