PRRT2 gene-related paroxysmal disorders.
10.3760/cma.j.issn.1003-9406.2014.01.012
- Author:
Jin LI
1
;
Xiao MAO
;
Junling WANG
;
Nan LI
;
Beisha TANG
Author Information
1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R.China. bstang7398@163.com.
- Publication Type:Journal Article
- MeSH:
Chorea;
genetics;
Epilepsy, Benign Neonatal;
genetics;
Family Health;
Genetic Predisposition to Disease;
genetics;
Humans;
Infant;
Infant, Newborn;
Membrane Proteins;
genetics;
Mutation;
Nerve Tissue Proteins;
genetics
- From:
Chinese Journal of Medical Genetics
2014;31(5):595-599
- CountryChina
- Language:Chinese
-
Abstract:
Proline-rich transmembrane protein 2 (PRRT2), the causative gene of paroxysmal kinesigenic dyskinesias (PKD), benign familial infantile seizures (BFIS) and infantile convulsions with paroxysmal choreoathetosis (ICCA), also causes a variety of neurological paroxysmal disorders. These diseases share the same characteristics which may be due to the same genetic defect. We therefore propose to name them as PRRT2-related paroxysmal disorders (PRPDs) in order to assist clinical diagnosis, treatment and prognosis. This paper has reviewed the clinical phenotype, common features and pathogenesis of the PRPDs.
