Advances in personalized diagnosis and treatment of treatable genetic diseases of pediatric neurology in precision medicine period
10.3760/cma.j.issn.2095-428X.2016.12.021
- VernacularTitle:精准医学时期儿科神经可治性遗传病的个体化诊治进展
- Author:
Chunhui HU
;
Longfei WANG
;
Hua WANG
- Publication Type:Journal Article
- Keywords:
Precision medicine;
Genetic disease;
Diagnosis;
Treatment
- From:
Chinese Journal of Applied Clinical Pediatrics
2016;31(12):951-955
- CountryChina
- Language:Chinese
-
Abstract:
The development of precision medicine in 21st century has accelerated a new area of medicine,bringing a precise project of diagnosis and treatment.The new techniques for genetic diseases including next generation sequencing and copy number variation detection technology have facilitated the diagnosis and treatment of genetic and rare diseases in children's neural system,providing a new directed therapies especially for creatine deficiency syndromes,pyridoxine dependent epilepsy,glucose transporter type 1 deficiency syndrome,malignant migrating partial seizures in infancy,GRIN2A-related early-onset epileptic encephalopathy,KCNQ2-related epilepsies.With the new area of precision medicine arrival,an epoch-making revolution for the diagnosis and treatment of genetic and rare diseases in children's neural system is coming towards us.
