Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly
CHKA基因的双等位基因变异会导致一种伴有癫痫和小头畸形的神经发育障碍。
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awac074
Klöckner, Chiara; Fernández-Murray, J Pedro; Tavasoli, Mahtab; Sticht, Heinrich; Stoltenburg-Didinger, Gisela; Scholle, Leila Motlagh; Bakhtiari, Somayeh; Kruer, Michael C; Darvish, Hossein; Firouzabadi, Saghar Ghasemi; Pagnozzi, Alex; Shukla, Anju; Girisha, Katta Mohan; Narayanan, Dhanya Lakshmi; Kaur, Parneet; Maroofian, Reza; Zaki, Maha S; Noureldeen, Mahmoud M; Merkenschlager, Andreas; Gburek-Augustat, Janina; Cali, Elisa; Banu, Selina; Nahar, Kamrun; Efthymiou, Stephanie; Houlden, Henry; Jamra, Rami Abou; Williams, Jason; McMaster, Christopher R; Platzer, Konrad