Table 21 Clinical forms and genes
Classical | Atypical | Total | ||||
|---|---|---|---|---|---|---|
Hanefeld | Congenital | Z-RTT | ARTT-NOS | |||
RTT male MECP2 + | – | – | – | – | 2/20 (10 %) | 2 |
RTT females MECP2 + | 94/98 (96 %) | – | – | 18/19 (95 %) | 4/20 (20 %) | 116 |
RTT females MECP2- | 4/98 (4 %) | – | – | 1/19 (5 %) | 13/20 (65 %) | 18 |
CDKL5 + | – | 12 | – | – | – | 12 |
CDKL5-e MECP2- | 1 | 1 | ||||
FOXG1 + | – | – | 1 | – | – | 1 |
MEF2C + | – | – | – | – | 1/20 (5 %) | 1 |
TOTAL | 98 (100 %) | 13 (100 %) | 1 | 19 (100 %) | 20 (100 %) | 151 |