NEXMIF variants are associated with epilepsy with or without intellectual disability
Zi-Long Ye, Hong-Jun Yan, Qing-Hui Guo, Shu-Qian Zhang, Sheng Luo, Ya-Jun Lian, Yunqing Ma, Xinguo Lu, Xiao‐Rong Liu, Nan-Xiang Shen, Liang‐Di Gao, Zheng Chen, Yi‐Wu Shi
Topics & Concepts
Missense mutationEpilepsyIntellectual disabilityPhenotypeExome sequencingGeneticsGenotypeEncephalopathyBiologyGlobal developmental delayMedicineInternal medicineGeneNeuroscienceGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersPhosphodiesterase function and regulation