Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

Daniel G. Calame, Somayeh Bakhtiari, Rachel Logan, Zeynep Coban‐Akdemir, Haowei Du, Tadahiro Mitani, Jawid M. Fatih, Jill V. Hunter, Isabella Herman, Davut Pehli̇van, Shalini N. Jhangiani, Richard Person, Rhonda E. Schnur, Sheng Chih Jin, Kaya Bilgüvar, Jennifer E. Posey, Sookyong Koh, Saghar Ghasemi Firouzabadi, Elham Alehabib, Abbas Tafakhori, Sahra Esmkhani, Richard A. Gibbs, Mahmoud M. Noureldeen, Maha S. Zaki, Dana Marafi, Hossein Darvish, Michael C. Kruer, James R. Lupski