Biallelic ADGRV1 variants are associated with Rolandic epilepsy.

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作者： Zhigang,Liu ^[1] ; Xingguang,Ye ^[2] ; Jieyan,Zhang ^[1] ; Benze,Wu ^[1] ; Shiwei,Dong ^[1] ; Pingming,Gao ^[1]

作者单位： Department of Pediatrics, Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, 11 Renminxi Road 11, Foshan, 528000, Guangdong, China. ^[1] The Second School of Clinical Medicine, Southern Medical University, Guangzhou, China. ^[2] Department of Pediatrics, Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, 11 Renminxi Road 11, Foshan, 528000, Guangdong, China. gaopm666@163.com. ^[3] The Second School of Clinical Medicine, Southern Medical University, Guangzhou, China. gaopm666@163.com. ^[4]

关键词 ADGRV1 Calcium homeostasis GRIN2B Rolandic epilepsy RyR2 Variants

主题词癫痫, 运动性(Epilepsy, Rolandic);基因频率(Gene Frequency);人类(Humans);突变, 误义(Mutation, Missense);受体, G-蛋白偶联(Receptors, G-Protein-Coupled);兰尼碱受体钙释放通道(Ryanodine Receptor Calcium Release Channel)

DOI 10.1007/s10072-021-05403-y

PMID 34160719

发布时间 2022-12-07

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