Clinical characteristics and genetic analysis of a family of febrile seizure with paroxysmal kinesigenic dyskinesia
10.3760/cma.j.issn.1006-7876.2013.03.006
- VernacularTitle:热性惊厥伴发作性运动诱发性运动障碍一家系临床特点和基因分析
- Author:
Yubin HE
;
Xiangyang LI
;
Li XIA
;
Jingjing LIANG
;
Jingyu LIU
;
Songqing PAN
- Publication Type:Journal Article
- Keywords:
Chorea;
Seizures,febrile;
Membrane proteins;
Nerve tissue proteins;
Mutation;
Electroencephalography;
Pedigree
- From:
Chinese Journal of Neurology
2013;(3):164-167
- CountryChina
- Language:Chinese
-
Abstract:
Objective To discuss clinical,electroencephalogram(EEG) and PRRT2 gene mutation by reporting a febrile seizure (FS) with paroxysmal kinesigenic dyskinesia (PKD) family.Methods Detailed clinical data of the family were collected.The proband (Ⅳ1) and another 4 patients (Ⅲ1,Ⅲ4,Ⅳ2,Ⅳ3)were studied through clinical examinations.Clinical symptoms of Ⅳ2 were not typical,who was diagnosed as a suspected case.Mutation analysis of PRRT2 gene was screened by polymerase chain reaction (PCR) and DNA direct sequencing in 5 patients (Ⅳ1,Ⅲ1,Ⅲ4,Ⅳ2,Ⅳ3) and 4 unaffected family members (Ⅱ2,Ⅲ2,Ⅲ5,Ⅳ4).Results PKD patients had brief involuntary movements in the limbs or trunk induced by sudden voluntary movement when patients were in the stationary state since the teenagers.Two cases (Ⅲ,Ⅲ4) were accompanied by FS.Three cases(Ⅳ1,Ⅲ1 and Ⅲ4)had abnormal EEG records.The PRRT2 gene mutation (c.649dupC mutation) was identified in a healthy member (Ⅳ4) and 4 patients (Ⅳ1,Ⅲ1,Ⅲ4,Ⅳ3).Conclusions FS with PKD family has a PRRT2 gene mutation.The diagnosis is mainly based on family history,typical clinical manifestations and genetic test.This kind of disease may have pre-symptomatic patients.
