Skip to main content
. 2014 Mar 12;111(12):4596–4601. doi: 10.1073/pnas.1311141111

Table 1.

Subject demographics and characteristics at baseline

Age, y Diagnosis Stage MECP2 mutation Concomitant medications Breathing phenotype
3 Classic II R168X None None
7 MRD* n/a C1135_1142 del None None
7 MRD* n/a C1135_1142 del None None
2 Classic II C790_808 del Levetiracetam BH, HV, AE
5 Classic III Large del exon 3 and 4 None BH, HV
4 Classic III C1159_1273 del None AE
8 Classic III R255X Lamotrigine, lorazepam, melatonin BH, AE§
4 Classic III R255X None AE
8 Classic III T158M None BH, AE§
3 MRD n/a R306C None None
10 Classic III Large del exon 1 and 2 Gabapentin, diastat BH, AE, cyanosis§
8 Classic III P322L Levetiracetam BH, AE, cyanosis§

AE, air expulsion; BH, breath holding; HV, hyperventilation.

*

Subjects did not continue in OLE.

Staging not applicable (n/a) to non-RTT.

Subject with mild apnea (apneic episodes >10 s and <5 apneas per hour).

§

Subjects with moderate–severe apnea (apneic episodes >10 s and >5 apneas per hour).