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.