ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes.
Ming-Feng HeLi-Hong LiuSheng LuoJuan WangJia-Jun GuoPeng-Yu WangQiong-Xiang ZhaiSu-Li HeDong-Fang ZouXiao-Rong LiuBing-Mei LiHai-Yan MaJing-Da QiaoPeng ZhouNa HeYong-Hong YiWei-Ping LiaoPublished in: Journal of medical genetics (2024)
is a novel causative gene of childhood partial epilepsy and DEE. The patients of infantile spasms achieved seizure-free after treatment without adrenocorticotropic-hormone/steroids implies a significance of genetic diagnosis in precise treatment. The genetic dependent stage provided an insight into the underlying mechanism of the evolutional course of illness.
Keyphrases
- copy number
- genome wide
- end stage renal disease
- newly diagnosed
- ejection fraction
- chronic kidney disease
- prognostic factors
- early life
- peritoneal dialysis
- dna methylation
- gene expression
- temporal lobe epilepsy
- childhood cancer
- patient reported outcomes
- adipose tissue
- transcription factor
- metabolic syndrome
- genome wide identification
- genome wide analysis