Table 2 Summary of established genes causing EE/DEE in our study cohort, as well as recurrent candidate genes for neurodevelopmental disorders
Disease gene category | Mode of inheritance | |||
|---|---|---|---|---|
Autosomal | X-linked | |||
Dominant | Recessive | Dominant | Recessive | |
(de novo) | (inherited or otherwise indicated) | (de novo) | (inherited) | |
Established genes/regions | 1p36 deletion | ACO2 CH | CDKL5 deletion | ARX |
22q11.2 duplication | AP4S1 HO | CDKL5 | SMS | |
KCNQ2 | BRAT1 CH | |||
MBD5 deletion | POLG CH | |||
SCN1A (3 × ) | SPATA5 CH (one allele deletion) | |||
SCN2A | SPATA5 CH (de novo and inherited) | |||
SCN8A | SZT2 CH (de novo and inherited) | |||
STXBP1 (2 × ) | PRUNE1 HO | |||
UBE3A deletion (2 × ) | ||||
GABRB2 | ||||
Recurrent candidate genes | PIK3AP1 | GTF3C3 CH | ||
UFC1 HO | ||||
WRAP53 CH | ||||
