Ontology highlight
ABSTRACT:
SUBMITTER: He J
PROVIDER: S-EPMC8005681 | biostudies-literature | 2021 May
REPOSITORIES: biostudies-literature
He Jialinzi J Tang Haiyun H Liu Chaorong C Tan Langzi L Xiao Wenbiao W Xiao Bo B Long Hongyu H Long Lili L
Experimental and therapeutic medicine 20210318 5
The present study was performed to investigate the clinical manifestations and pathogenic variants in three large families with autosomal dominant paroxysmal kinesigenic dyskinesia (PKD) and/or benign familial infantile epilepsy (BFIE) in China. Detailed clinical data and family history were collected. Genomic DNA was isolated from the peripheral blood samples of all available members. The genetic diagnosis was made by whole-exome sequencing on the three probands and the candidate variants were ...[more]