Santasree Banerjee, Qiang Zhao, Bo Wang, Jiale Qin, Xin Yuan, Ziwei Lou, Weizeng Zheng, Huanguo Li, Xiaojun Wang, Xiawei Cheng, Yu Zhu, Fan Lin, Fan Yang, Junyu Xu, Anjana Munshi, Parimal Das, Yuanfeng Zhou, Kausik Mandal, Yi Wang, Muhammad Ayub, Nobutaka Hirokawa, Yongmei Xi, Guangfu Chen, Chen Li
Motor proteins, encoded by Kinesin superfamily ( KIF ) genes, are critical for brain development and plasticity. Increasing studies reported KIF 's roles in neurodevelopmental disorders. Here, a 6 years and 3 months-old Chinese boy with markedly symptomatic epilepsy, intellectual disability, brain atrophy, and psychomotor retardation was investigated. His parents and younger sister were phenotypically normal and had no disease-related family history. Whole exome sequencing identified a novel heterozygous in-frame deletion (c...
April 2024: MedComm