摘要
Dear Editor,Hamanaka et al.first reported semaphorin 6B(SEMA6B)(MIM 608873)as a causative gene for progressive myoclonic epilepsy(PME)in 2020[1].They reported that four variants occurred in the last exon of SEMA6B in five unrelated individuals with PME.The clinical presentations of these patients harboring truncated SEMA6B de novo variants(DNVs)were characterized by progressive neurological decline(age of onset:about 2 years old)and myoclonic epilepsy(age of onset:1 year 5 months to 6 years old).
基金
This work was supported by the National Natural Science Foundation of China(81801136)
Major Scientific and Technological Projects for Collaborative Prevention and Control of Birth Defects in Hunan Province(2019SK1010,2019SK1012,and 2019SK1014)
the National Key R&D Program of China(2019YFC1005100)
the Chinese Postdoctoral Science Foundation(2019M662804)
the Natural Science Foundation of Hunan Province(2020JJ4854).
