Table 5.
Additional candidate genes for epilepsy in confirmedde novo CNVs.
| Deletions | ||||
|---|---|---|---|---|
| AGRN | GALR1 | MAPK8IP2 | PARK2 | RTN4R |
| AKT3 | GRIN1 | MBD5 | PI4KA | SNAP29 |
| ARID1B | JAKMIP1 | MBP | PI4KAP1 | THBS2 |
| CACNA1B | KCNJ3 | NIPA1 | PMP22 | WNT7B |
| DVL1 | KIF5C | PAFAH1B1 | PRKCZ | |
| Duplications | ||||
| APBA3 | EFNB3 | MYH10 | PCDH gene cluster | |
| ARHGEF7 | EGR3 | NLGN2 | PPP3CC | |
| COL4A1 | FGF14 | NSTR1 | PURA | |
| DLG4 | GABARAP | P2RX1 | SOX6 | |
| DOC2A | MAPK3 | P2RX5 | SH3GL1 | |
A) deletions and B) duplications. These include genes coding for ion channels, proteins involved in structure or organization of the synapse or in synaptic transmission of neurotransmitters, gene regulatory proteins, and proteins involved in neurodevelopment. The PCDH gene cluster on chromosome 5q31.2-q22 includes the following genes: PCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA7, PCDHA8, PCDHA9, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHAC1, PCDHAC2, PCDHB1, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB17, PCDHB18, PCDHB19P, PCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHB8P, PCDHGC3, PCDHGC4, PCDHGC5, PCDH1.