Skip to main content

Table 1 Patients clinical features

From: Clinical features of patients with paroxysmal kinesigenic dyskinesia, mutation screening of PRRT2 and the effects of morning draughts of oxcarbazepine

PatientsAge at onset (years)FamilyPhenomenolo-gy of attackLocalisationPRRT2 mutationsFrequency of attack (per day)Comorbidity
12.7fam1D + CUpper and lower limbsc.604-607delTCAC
p.S202Hfs*25
< 5ICCA
27.6fam1CLower limbsc.604-607delTCAC
p.S202Hfs*25
< 5ICCA
37.8fam2CLower limbsc.629dupC
p.Ala211Serfs*14
5 to 10ICCA
42.5fam3DLower limbs> 10 
510fam4DUpper and lower limbsc.649dupC
p.Arg217Profs*8
5 to< 10 
66.7SDLower limbs< 5 
79.8SDRight limbs5 to< 10 
813SD + CUpper and lower limbs5 to< 10 
95.2SDLeft lower limb< 5 
105SDLower limbs< 5 
1113SDRight upper limb< 5 
124.7SD + CUpper and lower limbs facial> 10 
1313SDUpper and lower limbs5to < 10 
1412.5SDLower limbs< 5 
159.6SD + CLower limbs> 10 
1610.1SDRight limbs5 to< 10 
173SCUpper limbs< 5Partial epilepsy
187.6SCUpper limbs5 to< 10 
198.2SD + CUpper and lower limbsc.649dupC
p.Arg217Profs*8
5 to< 10 
2010SD + CUpper and lower limbs5 to< 10 
  1. M Male, F Female, S Sporadic, D Dystonia, C Choreoathetosis, ICCA Infantile convulsions with paroxysmal choreoathetosis
\