Article
RYR3 Variants Are Potentially Associated With Idiopathic (Non-Lesional) Partial Epilepsy/Susceptibility of Seizures, Toward Understanding the Gene-Disease Association by Genetic Dependent Nature.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Jul 2025
Tian Yang, Hou Yun-Qi, Zhai Qiong-Xiang, Song Xing-Wang, Li Bing-Mei, Wang Jie, Ji Jing-Jing, Liao Yin-Ting, Chen Wen-Xiong, Li Bin, Liao Wei-Ping
Abstract excerpt
The RYR3 gene encodes a brain-type ryanodine receptor that functions to release calcium from intracellular storage and plays an essential role in calcium signaling. The associations between RYR3 variants and brain disorders remain unknown. We performed whole-exome sequencing in patients with idiopathic (non-lesional) partial epilepsy of unknown etiology. One de novo missense and six biallelic missense RYR3...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.