A Frameshift Variant in the SEMA6B Gene Causes Global Developmental Delay and Febrile Seizures.

Author: Li SHU ¹ ; Yuchen XU ² ; Qi TIAN ¹ ; Yuanyuan CHEN ³ ; Yaqin WANG ⁴ ; Hui XI ¹ ; Hua WANG ¹ ; Neng XIAO ^{5
,

6} ; Xiao MAO ⁷
Author Information

1. Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, 410008, China.
2. Department of Neurology, Xiangya Hospital, Changsha, 410008, China.
3. Center for Reproductive Medicine, Maternal and Child Health Hospital of Hunan Province, Changsha, 410008, China.
4. Health Management Center, The Third Xiangya Hospital, Central South University, Changsha, 410013, China.
5. Department of Pediatric Neurology, Chenzhou First People's Hospital, Chenzhou, 423000, China. hnczxn@
6. com.
7. Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, 410008, China. gbtechies@outlook.com.
Publication Type:Letter
MeSH: Child; Developmental Disabilities/genetics*; Frameshift Mutation; Humans; Seizures/genetics*; Seizures, Febrile/genetics*; Semaphorins/genetics*
From: Neuroscience Bulletin 2021;37(9):1357-1360
CountryChina
Language:English