1. A. Ability to walk B. Severity of epilepsy C. Onset of seizures 1 21 2
Scale of severity 10 20 30 40 50 60 70 80 90
100
Large deletions (n=6)
NS mutations in TRD (n=21)
NS mutations in the ID (n=10)
LT mutations (n=9)
MS mutations in the TRD (n=12)
MS mutations in the MBD (n=17)
B. Severity of epilepsy
Large deletions (n=7)
NS mutations in TRD (n=23)
LT mutations (n=11)
C. Onset of seizures
NS mutations in TRD (n=22)
MS mutations in the MBD (n=15)
E-Figure 1: Relationship between RTT phenotype and MECP2 genotype. Type and localisation of MECP2 mutations cause differential severity of three clinical features: gross motor function (ability to walk) (A), severity of epilepsy (B) and seizure onset (C). There is an overall difference for the clinical category “walking” (A, p=0.05), in the clinical category “epilepsy” (B, p=0.003) and in the clinical category “onset of seizures” (C, p=0.01) between the six different mutation groups. NS, Non-sense. MS, Missense. LT, Large truncating. ID, Interdomain.
Percent
Percent