Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

• Main Authors: Tsai, Meng Han, Muir, Alison M., Wang, Won nJing, Kang, Yi Ning, Yang, Kun Chuan, Chao, Nian Hsin, Wu, Mei Feng, Chang, Ying Chao, Porter, Brenda E., Jansen, Laura A., Sebire, Guillaume, Deconinck, Nicolas, Fan, Wen Lang, Su, Shih Chi, Chung, Wen Hung, Almanza Fuerte, Edith P., Mehaffey, Michele G., Ng, Ching Ching, Chan, Chung Kin, Lim, Kheng Seang, Leventer, Richard J., Lockhart, Paul J., Riney, Kate, Damiano, John A., Hildebrand, Michael S., Mirzaa, Ghayda M., Dobyns, William B., Berkovic, Samuel F., Scheffer, Ingrid E., Tsai, Jin Wu, Mefford, Heather C.
• Format: Article
• Published: Elsevier 2020
• Subjects: QH Natural history; R Medicine
• Online Access: http://eprints.um.edu.my/24797/; https://doi.org/10.1016/j.neuron.2020.01.027

Lissencephaly (LIS), denoting a “smooth brain,” is characterized by the absence of normal cerebral convolutions with abnormalities of cortical thickness. Pathogenic variants in over 20 genes are associated with LIS. The majority of posterior predominant LIS is caused by pathogenic variants in LIS1 (...