| Seizure, Febrile, Simple |
C0149886 |
GABRG2
|
25362483 |
|
IMPA2
|
15557493 |
|
SCN1A
|
25362483, 21480876, 25344690 |
|
SCN1B
|
25362483 |
|
SCN2A
|
25344690 |
|
ANO3
|
25344690 |
|
STX1B
|
25362483 |
| Seizure, Febrile, Complex |
C0751057 |
GABRG2
|
25362483 |
|
IMPA2
|
15557493 |
|
SCN1A
|
25344690, 21480876, 25362483 |
|
SCN1B
|
25362483 |
|
SCN2A
|
25344690 |
|
COG4
|
|
|
PCDH19
|
|
|
ANO3
|
25344690 |
|
STX1B
|
25362483 |
| SEIZURES, BENIGN FAMILIAL INFANTILE, 3 |
C1843140 |
KCNQ2
|
26910900, 19380078 |
|
SCN2A
|
29844171, 30144217, 23758435, 17386050, 29186148, 24579881, 26993267, 18479388, 15028761, 27781031, 20371507, 26291284, 12243921, 28379373, 27867041, 15048894, 25772804, 23360469, 19786696, 28554332, 27824329, 17021166, 22612257, 11371648, 25982755, 29215089, 23935176, 26648591, 16417554 |
| SEIZURES, BENIGN FAMILIAL NEONATAL, 1 |
C3149074 |
KCNQ2
|
9425895, 9430594, 17475800, 12847176, 11572947, 14534157, 14669214, 24375629, 26993267, 19344764, 15249611, 15178210, 16916607, 16319223, 22169383, 22275249, 10482260, 25960349, 11784811, 15596769, 18006581, 16686649, 25982755, 17129708, 9872318, 11175290, 19559753, 21913284, 12742592, 21937445, 25959266, 14985406, 12754513, 23708187, 23360469, 19818940, 16260777, 11690625, 23621294, 24318194, 15030501, 18246739, 16966552, 17993630, 10774989, 16691402, 23290024, 20119593, 25046240, 10323247 |
| Complex partial seizures |
C0149958 |
ABAT
|
10407778 |
|
ACAT1
|
23266720 |
|
ACHE
|
27083141, 19941057 |
|
ADCYAP1
|
29673861 |
|
ADORA2A
|
19488739 |
|
ADRA1B
|
19125850 |
|
AGT
|
16771832 |
|
ALAD
|
19798568 |
|
ALPL
|
27466191, 7550313 |
|
APEX1
|
20446108 |
|
APOE
|
23266720 |
|
ATP7A
|
22815746 |
|
BCHE
|
8667461, 20971807, 18597747 |
|
BDNF
|
15781040, 21269288, 9073163 |
|
CACNA1D
|
|
|
CAT
|
19616071, 18096215, 20592767 |
|
CCK
|
6265841 |
|
CHAT
|
19941057 |
|
CHRM1
|
11392617, 12091480, 12713643, 10069499, 8028781 |
|
CHRNA3
|
15275829 |
|
CHRNA4
|
16339034, 10942032 |
|
CHRNA5
|
14996991, 9495872 |
|
CHRNA7
|
10942032, 11893908, 9495872, 14996991, 10565853 |
|
CHRNB4
|
15275829, 14996991 |
|
CLCN4
|
|
|
CLU
|
23266720 |
|
ABCC2
|
16504477 |
|
CNR1
|
12954810 |
|
CRH
|
1700951, 1596084, 7821275, 8923670, 1914160, 11074187 |
|
CYP11A1
|
19125849 |
|
DRD1
|
1829682, 1451735 |
|
DRD2
|
1829682, 7936204, 11860278 |
|
DRD3
|
18566292 |
|
CLN8
|
|
|
FAAH
|
25933444 |
|
FGF2
|
21269288 |
|
FOXG1
|
18627055 |
|
FOS
|
12946577, 8923670, 9630518, 11955713 |
|
MTOR
|
|
|
GABRA1
|
|
|
GABRA5
|
8985701 |
|
GABRD
|
|
|
GABRG2
|
|
|
GAD2
|
8954991, 8985701 |
|
GAMT
|
15651030 |
|
GNB1
|
|
|
GNB3
|
18855531 |
|
GRIK1
|
12080343 |
|
HTR1A
|
12646302, 16313900, 2533336 |
|
HTR1B
|
2533336 |
|
IDH2
|
27469509 |
|
IFNB1
|
12432978 |
|
IL1B
|
16824509 |
|
IL6
|
12836160 |
|
IMPA1
|
17460611 |
|
INS
|
14714756, 4115818 |
|
KCNA2
|
25751627 |
|
KCNJ11
|
18021373 |
|
KCNQ2
|
27602407 |
|
LEP
|
17993459 |
|
LETM1
|
14706454 |
|
MECP2
|
19921286 |
|
MT3
|
23266720 |
|
NGF
|
18815271 |
|
NGFR
|
10436046 |
|
NOS1
|
8749039 |
|
NOS2
|
19559095 |
|
NPY
|
16194568, 18005069, 15451008 |
|
OPRK1
|
1675896, 18042875 |
|
OPRM1
|
18042875, 1675896 |
|
OXT
|
292422, 5067144, 19397503, 644406, 3923190, 5493616 |
|
PAM
|
19815072 |
|
PDYN
|
1675896 |
|
POLG
|
20138553, 20446108 |
|
POMC
|
2821097, 1656808, 2169275, 6324019, 2554740, 7127082 |
|
PRKCD
|
25895139 |
|
RELN
|
|
|
PTGS2
|
14518562 |
|
PVALB
|
18495095 |
|
REST
|
21905079 |
|
SCN1A
|
|
|
SCN1B
|
|
|
SCN2A
|
|
|
SCN9A
|
|
|
SLC1A1
|
23262392 |
|
SLC2A1
|
11603379, 9462754, 10980529 |
|
SLC6A1
|
11074187 |
|
SLC6A2
|
15911120 |
|
SLC8A1
|
20888801 |
|
SLC8A3
|
20888801 |
|
SOD2
|
20446108 |
|
SST
|
20134357, 7913897, 16771832 |
|
SSTR2
|
16771832 |
|
CDKL5
|
22264704 |
|
STXBP1
|
|
|
SYN2
|
18701217 |
|
TBCD
|
27666370 |
|
TCF4
|
18728071 |
|
TRH
|
15781040, 10443546 |
|
TSC1
|
28215400 |
|
TSC2
|
28215400, 21062901 |
|
SLC30A1
|
23266720 |
|
EPM2A
|
|
|
MPDZ
|
14960011 |
|
NRP2
|
18657176 |
|
LGI1
|
|
|
CRIPT
|
|
|
FIG4
|
|
|
SIGMAR1
|
11684152 |
|
PNKP
|
20118933 |
|
POGZ
|
|
|
ARHGEF9
|
|
|
ATXN10
|
|
|
PNPLA8
|
|
|
GAL
|
|
|
GHRL
|
19429016 |
|
RBFOX1
|
21623373 |
|
CNNM2
|
23027747 |
|
PLPPR1
|
23266720 |
|
VPS11
|
|
|
SLC17A7
|
18495095 |
|
TBC1D24
|
|
|
SLC12A5
|
20086212 |
|
PCDH19
|
|
|
MIB1
|
20943912 |
|
MICAL1
|
|
|
ADGRV1
|
|
|
PIGM
|
16767100 |
|
STX1B
|
|
|
ACSF3
|
|
|
HCN1
|
20384728 |
|
NHLRC1
|
|
| Generalized seizures |
C0234533 |
ABAT
|
10407778 |
|
ACAT1
|
23266720 |
|
ACHE
|
19941057, 27083141 |
|
ADCYAP1
|
29673861 |
|
ADORA2A
|
19488739 |
|
ADRA1B
|
19125850 |
|
ADRA2B
|
|
|
AGT
|
16771832 |
|
ALAD
|
19798568 |
|
ALPL
|
27466191, 7550313 |
|
APEX1
|
20446108 |
|
APOE
|
23266720 |
|
ASPA
|
|
|
ATP1A1
|
|
|
ATP7A
|
22815746 |
|
BCHE
|
18597747, 8667461, 20971807 |
|
BDNF
|
15781040, 21269288, 9073163 |
|
CAT
|
18096215, 19616071, 20592767 |
|
CCK
|
6265841 |
|
SCARB2
|
|
|
CHAT
|
19941057 |
|
CHRM1
|
11392617, 12713643, 12091480, 8028781, 10069499 |
|
CHRNA3
|
15275829 |
|
CHRNA4
|
10942032, 16339034 |
|
CHRNA5
|
14996991, 9495872 |
|
CHRNA7
|
10942032, 9495872, 11893908, 14996991, 10565853 |
|
CHRNB4
|
14996991, 15275829 |
|
CLU
|
23266720 |
|
ABCC2
|
16504477 |
|
CNR1
|
12954810 |
|
CRH
|
7821275, 11074187, 1700951, 1914160, 1596084, 8923670 |
|
CTNND2
|
|
|
CYP11A1
|
19125849 |
|
DRD1
|
1829682, 1451735 |
|
DRD2
|
1829682, 11860278, 7936204 |
|
DRD3
|
18566292 |
|
DYRK1A
|
|
|
ERCC2
|
|
|
ERCC3
|
|
|
FAAH
|
25933444 |
|
FGF2
|
21269288 |
|
FGFR3
|
|
|
FOXG1
|
18627055 |
|
FOS
|
12946577, 8923670, 9630518, 11955713 |
|
MTOR
|
|
|
FTL
|
|
|
GABRA5
|
8985701 |
|
GAD2
|
8985701, 8954991 |
|
GAMT
|
15651030 |
|
GNB3
|
18855531 |
|
GRIK1
|
12080343 |
|
GRIK2
|
|
|
GTF2E2
|
|
|
HNMT
|
|
|
NDST1
|
|
|
HTR1A
|
2533336, 16313900, 12646302 |
|
HTR1B
|
2533336 |
|
IDH2
|
27469509 |
|
IFNB1
|
12432978 |
|
IL1B
|
16824509 |
|
IL6
|
12836160 |
|
IMPA1
|
17460611 |
|
INS
|
14714756, 4115818 |
|
KCNA2
|
25751627 |
|
KCNJ11
|
18021373 |
|
KCNQ2
|
27602407 |
|
LEP
|
17993459 |
|
LETM1
|
14706454 |
|
MECP2
|
19921286 |
|
MT3
|
23266720 |
|
NGF
|
18815271 |
|
NGFR
|
10436046 |
|
NOS1
|
8749039 |
|
NOS2
|
19559095 |
|
NPY
|
15451008, 18005069, 16194568 |
|
OPRK1
|
1675896, 18042875 |
|
OPRM1
|
18042875, 1675896 |
|
OXT
|
19397503, 3923190, 292422, 5493616, 644406, 5067144 |
|
PAM
|
19815072 |
|
PDYN
|
1675896 |
|
PIGC
|
|
|
POLG
|
20446108, 20138553 |
|
POMC
|
1656808, 6324019, 2169275, 7127082, 2554740, 2821097 |
|
PPP3CA
|
|
|
PRKCD
|
25895139 |
|
RELN
|
|
|
PTGS2
|
14518562 |
|
PVALB
|
18495095 |
|
RAB27A
|
|
|
REST
|
21905079 |
|
CLIP1
|
|
|
SARS1
|
|
|
SCN8A
|
|
|
ST3GAL3
|
|
|
SLC1A1
|
23262392 |
|
SLC2A1
|
9462754, 10980529, 11603379 |
|
SLC6A1
|
11074187 |
|
SLC6A2
|
15911120 |
|
SLC8A1
|
20888801 |
|
SLC8A3
|
20888801 |
|
SOD2
|
20446108 |
|
SST
|
20134357, 16771832, 7913897 |
|
SSTR2
|
16771832 |
|
CDKL5
|
22264704 |
|
SYN2
|
18701217 |
|
CNTN2
|
|
|
TBCD
|
27666370 |
|
TCF4
|
18728071 |
|
TK2
|
|
|
TRH
|
10443546, 15781040 |
|
TSC1
|
28215400 |
|
TSC2
|
21062901, 28215400 |
|
EZR
|
|
|
XK
|
|
|
RNF113A
|
|
|
SLC30A1
|
23266720 |
|
TUSC3
|
|
|
PRSS12
|
|
|
CRADD
|
|
|
MPDZ
|
14960011 |
|
NRP2
|
18657176 |
|
AIMP1
|
|
|
ADGRG1
|
|
|
PLAA
|
|
|
MED23
|
|
|
TECR
|
|
|
SIGMAR1
|
11684152 |
|
WARS2
|
|
|
SLC9A6
|
|
|
KDM5B
|
|
|
MAN1B1
|
|
|
PNKP
|
20118933 |
|
TNIK
|
|
|
PLCB1
|
|
|
WASHC4
|
|
|
FRRS1L
|
|
|
ATXN10
|
|
|
CNTNAP2
|
|
|
DCPS
|
|
|
OSTM1
|
|
|
SLC45A1
|
|
|
CRBN
|
|
|
RSRC1
|
|
|
GHRL
|
19429016 |
|
RBFOX1
|
21623373 |
|
CNNM2
|
23027747 |
|
CC2D1A
|
|
|
PLPPR1
|
23266720 |
|
NSUN2
|
|
|
ANO10
|
|
|
LINS1
|
|
|
FMN2
|
|
|
SLC17A7
|
18495095 |
|
C12orf4
|
|
|
SLC12A5
|
20086212 |
|
PCDH19
|
|
|
MIB1
|
20943912 |
|
MBOAT7
|
|
|
FBXO31
|
|
|
ZC3H14
|
|
|
PGAP1
|
|
|
EDC3
|
|
|
LMAN2L
|
|
|
MED25
|
|
|
TRAPPC9
|
|
|
PIGM
|
16767100 |
|
PRRT2
|
|
|
METTL23
|
|
|
MPLKIP
|
|
|
B3GALNT2
|
|
|
HCN1
|
20384728 |
|
SAMD12
|
|
|
GTF2H5
|
|
| Visual seizure |
C0270824 |
ABAT
|
10407778 |
|
ACAT1
|
23266720 |
|
ACHE
|
19941057, 27083141 |
|
ADCYAP1
|
29673861 |
|
ADORA2A
|
19488739 |
|
ADRA1B
|
19125850 |
|
AGT
|
16771832 |
|
ALAD
|
19798568 |
|
ALPL
|
27466191, 7550313 |
|
APEX1
|
20446108 |
|
APOE
|
23266720 |
|
ATP7A
|
22815746 |
|
BCHE
|
18597747, 8667461, 20971807 |
|
BDNF
|
9073163, 15781040, 21269288 |
|
CAT
|
19616071, 18096215, 20592767 |
|
CCK
|
6265841 |
|
CHAT
|
19941057 |
|
CHRM1
|
12091480, 8028781, 10069499, 12713643, 11392617 |
|
CHRNA3
|
15275829 |
|
CHRNA4
|
16339034, 10942032 |
|
CHRNA5
|
14996991, 9495872 |
|
CHRNA7
|
9495872, 14996991, 11893908, 10942032, 10565853 |
|
CHRNB4
|
15275829, 14996991 |
|
CLU
|
23266720 |
|
ABCC2
|
16504477 |
|
CNR1
|
12954810 |
|
CRH
|
7821275, 1914160, 8923670, 1596084, 11074187, 1700951 |
|
CYP11A1
|
19125849 |
|
DRD1
|
1829682, 1451735 |
|
DRD2
|
7936204, 1829682, 11860278 |
|
DRD3
|
18566292 |
|
FAAH
|
25933444 |
|
FGF2
|
21269288 |
|
FOXG1
|
18627055 |
|
FOS
|
9630518, 11955713, 12946577, 8923670 |
|
GABRA5
|
8985701 |
|
GAD2
|
8985701, 8954991 |
|
GAMT
|
15651030 |
|
GNB3
|
18855531 |
|
GRIK1
|
12080343 |
|
HTR1A
|
12646302, 2533336, 16313900 |
|
HTR1B
|
2533336 |
|
IDH2
|
27469509 |
|
IFNB1
|
12432978 |
|
IL1B
|
16824509 |
|
IL6
|
12836160 |
|
IMPA1
|
17460611 |
|
INS
|
14714756, 4115818 |
|
KCNA2
|
25751627 |
|
KCNJ11
|
18021373 |
|
KCNQ2
|
27602407 |
|
LEP
|
17993459 |
|
LETM1
|
14706454 |
|
MECP2
|
19921286 |
|
MT3
|
23266720 |
|
NGF
|
18815271 |
|
NGFR
|
10436046 |
|
NOS1
|
8749039 |
|
NOS2
|
19559095 |
|
NPY
|
18005069, 16194568, 15451008 |
|
OPRK1
|
18042875, 1675896 |
|
OPRM1
|
1675896, 18042875 |
|
OXT
|
3923190, 5493616, 5067144, 644406, 19397503, 292422 |
|
PAM
|
19815072 |
|
PDYN
|
1675896 |
|
POLG
|
20138553, 20446108 |
|
POMC
|
2169275, 1656808, 2554740, 6324019, 2821097, 7127082 |
|
PRKCD
|
25895139 |
|
PTGS2
|
14518562 |
|
PVALB
|
18495095 |
|
REST
|
21905079 |
|
SLC1A1
|
23262392 |
|
SLC2A1
|
11603379, 10980529, 9462754 |
|
SLC6A1
|
11074187 |
|
SLC6A2
|
15911120 |
|
SLC8A1
|
20888801 |
|
SLC8A3
|
20888801 |
|
SOD2
|
20446108 |
|
SST
|
7913897, 16771832, 20134357 |
|
SSTR2
|
16771832 |
|
CDKL5
|
22264704 |
|
SYN2
|
18701217 |
|
TBCD
|
27666370 |
|
TCF4
|
18728071 |
|
TRH
|
10443546, 15781040 |
|
TSC1
|
28215400 |
|
TSC2
|
21062901, 28215400 |
|
SLC30A1
|
23266720 |
|
MPDZ
|
14960011 |
|
NRP2
|
18657176 |
|
SIGMAR1
|
11684152 |
|
PNKP
|
20118933 |
|
GHRL
|
19429016 |
|
RBFOX1
|
21623373 |
|
CNNM2
|
23027747 |
|
PLPPR1
|
23266720 |
|
SLC17A7
|
18495095 |
|
SLC12A5
|
20086212 |
|
MIB1
|
20943912 |
|
PIGM
|
16767100 |
|
HCN1
|
20384728 |
| Tonic - clonic seizures |
C0494475 |
ABAT
|
10407778 |
|
ACADM
|
|
|
ACAT1
|
23266720 |
|
ACHE
|
27083141, 19941057 |
|
ADCYAP1
|
29673861 |
|
ADORA2A
|
19488739 |
|
ADRA1B
|
19125850 |
|
ADRA2B
|
|
|
AGT
|
16771832 |
|
AGTR2
|
|
|
ALAD
|
19798568 |
|
ALPL
|
27466191, 7550313 |
|
APEX1
|
20446108 |
|
APOE
|
23266720 |
|
ATP1A2
|
|
|
ALDH7A1
|
|
|
ATP7A
|
22815746 |
|
BCHE
|
20971807, 8667461, 18597747 |
|
BDNF
|
21269288, 15781040, 9073163 |
|
BUB1B
|
|
|
CACNA1A
|
|
|
CACNA1C
|
|
|
CACNA1D
|
|
|
CAT
|
20592767, 18096215, 19616071 |
|
CCK
|
6265841 |
|
CHAT
|
19941057 |
|
CHD2
|
|
|
CHRM1
|
12713643, 8028781, 12091480, 10069499, 11392617 |
|
CHRNA3
|
15275829 |
|
CHRNA4
|
16339034, 10942032 |
|
CHRNA5
|
14996991, 9495872 |
|
CHRNA7
|
11893908, 14996991, 10565853, 9495872, 10942032 |
|
CHRNB4
|
15275829, 14996991 |
|
CLCN4
|
|
|
CLU
|
23266720 |
|
TPP1
|
|
|
ABCC2
|
16504477 |
|
CNR1
|
12954810 |
|
CRH
|
11074187, 8923670, 7821275, 1914160, 1596084, 1700951 |
|
CSTB
|
|
|
CYP11A1
|
19125849 |
|
DLG3
|
|
|
DMD
|
|
|
SARDH
|
|
|
DNM1
|
|
|
DRD1
|
1829682, 1451735 |
|
DRD2
|
7936204, 11860278, 1829682 |
|
DRD3
|
18566292 |
|
CLN8
|
|
|
FAAH
|
25933444 |
|
ACSL4
|
|
|
FGF2
|
21269288 |
|
FGF12
|
27872899 |
|
FOXG1
|
18627055 |
|
FOS
|
8923670, 12946577, 11955713, 9630518 |
|
MTOR
|
|
|
GABRA1
|
|
|
GABRA5
|
8985701 |
|
GABRB3
|
|
|
GABRD
|
|
|
GABRG2
|
|
|
GAD2
|
8985701, 8954991 |
|
GAMT
|
15651030 |
|
GCK
|
|
|
GDI1
|
|
|
GNAO1
|
|
|
GNB1
|
27108799 |
|
GNB3
|
18855531 |
|
GRIA2
|
31300657 |
|
GRIA3
|
|
|
GRN
|
|
|
GRIK1
|
12080343 |
|
GRIN2A
|
|
|
GYS1
|
|
|
HCFC1
|
|
|
HNRNPU
|
|
|
HTR1A
|
12646302, 16313900, 2533336 |
|
HTR1B
|
2533336 |
|
IDH2
|
27469509 |
|
SP110
|
|
|
IFNB1
|
12432978 |
|
IL1B
|
16824509 |
|
IL6
|
12836160 |
|
IMPA1
|
17460611 |
|
INS
|
14714756, 4115818 |
|
PDX1
|
|
|
KCNA1
|
|
|
KCNA2
|
25751627 |
|
KCNJ11
|
18021373 |
|
KCNMA1
|
|
|
KCNQ2
|
27602407 |
|
KCNQ3
|
|
|
LBR
|
|
|
LEP
|
17993459 |
|
LETM1
|
14706454 |
|
MAPT
|
|
|
MECP2
|
19921286 |
|
MT3
|
23266720 |
|
ATP6
|
|
|
TRNC
|
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CYTB
|
|
|
ND1
|
|
|
ND2
|
|
|
ND3
|
|
|
ND4
|
|
|
ND5
|
|
|
ND6
|
|
|
TRNF
|
|
|
TRNH
|
|
|
TRNK
|
|
|
TRNL1
|
|
|
TRNQ
|
|
|
TRNS1
|
|
|
TRNS2
|
|
|
TRNV
|
|
|
TRNW
|
|
|
NEK1
|
|
|
NEUROD2
|
|
|
NGF
|
18815271 |
|
NGFR
|
10436046 |
|
NOS1
|
8749039 |
|
NOS2
|
19559095 |
|
NPY
|
15451008, 16194568, 18005069 |
|
OPRK1
|
18042875, 1675896 |
|
OPRM1
|
18042875, 1675896 |
|
OXT
|
292422, 19397503, 5067144, 644406, 3923190, 5493616 |
|
PAK3
|
|
|
PAM
|
19815072 |
|
PDYN
|
1675896 |
|
PLAGL1
|
|
|
POLG
|
20446108, 20138553 |
|
POMC
|
6324019, 2821097, 1656808, 7127082, 2554740, 2169275 |
|
PPP3CA
|
|
|
PRKCD
|
25895139 |
|
MAPK10
|
|
|
PRPS1
|
|
|
PSAP
|
|
|
PSEN1
|
|
|
PSPH
|
|
|
PTGS2
|
14518562 |
|
PVALB
|
18495095 |
|
REST
|
21905079 |
|
RORB
|
|
|
RPS6KA3
|
|
|
SCN1A
|
|
|
SCN1B
|
|
|
SCN2A
|
|
|
SCN8A
|
|
|
SCN9A
|
|
|
SLC1A1
|
23262392 |
|
SLC2A1
|
11603379, 10980529, 9462754 |
|
SLC6A1
|
11074187 |
|
SLC6A2
|
15911120 |
|
SLC8A1
|
20888801 |
|
SLC8A3
|
20888801 |
|
SOD2
|
20446108 |
|
SST
|
20134357, 7913897, 16771832 |
|
SSTR2
|
16771832 |
|
STAT3
|
|
|
CDKL5
|
22264704 |
|
STXBP1
|
|
|
ABCC8
|
|
|
SYN2
|
18701217 |
|
SYP
|
|
|
CNTN2
|
|
|
TBCD
|
27666370 |
|
TCF4
|
18728071 |
|
TSPAN7
|
|
|
TRH
|
10443546, 15781040 |
|
TSC1
|
28215400 |
|
TSC2
|
21062901, 28215400 |
|
VCP
|
|
|
ZNF711
|
|
|
ZNF41
|
|
|
ZNF142
|
31036918 |
|
SLC30A1
|
23266720 |
|
ALDH5A1
|
|
|
USP9X
|
|
|
CASK
|
|
|
JRK
|
|
|
GPAA1
|
|
|
MPDZ
|
14960011 |
|
NRP2
|
18657176 |
|
ST3GAL5
|
|
|
SQSTM1
|
|
|
CACNA1H
|
|
|
AP3D1
|
|
|
PIGQ
|
|
|
ARHGEF6
|
|
|
PIGL
|
|
|
FRMPD4
|
|
|
MED12
|
|
|
CERT1
|
|
|
ATP6AP2
|
|
|
GPHN
|
|
|
SIGMAR1
|
11684152 |
|
MTHFS
|
|
|
CERS1
|
|
|
RAI1
|
|
|
AFG3L2
|
|
|
MID2
|
|
|
IL1RAPL1
|
|
|
PNKP
|
20118933 |
|
CNKSR2
|
|
|
IQSEC2
|
|
|
MLC1
|
29466841 |
|
CUX2
|
|
|
CLASP1
|
|
|
FTSJ1
|
|
|
TXN2
|
|
|
CHMP2B
|
|
|
PHGDH
|
|
|
PGAP2
|
|
|
PIGP
|
|
|
GHRL
|
19429016 |
|
TUBA8
|
|
|
TREM2
|
|
|
TMEM106B
|
|
|
RBFOX1
|
21623373 |
|
CNNM2
|
23027747 |
|
PLPPR1
|
23266720 |
|
PIGV
|
|
|
VPS11
|
|
|
ALG1
|
|
|
SLC17A7
|
18495095 |
|
HYMAI
|
|
|
CPA6
|
|
|
THOC2
|
|
|
TBC1D24
|
|
|
SLC12A5
|
20086212 |
|
PCDH19
|
|
|
HACE1
|
|
|
MIB1
|
20943912 |
|
SLC25A19
|
|
|
TRAPPC11
|
|
|
STEEP1
|
|
|
UPF3B
|
|
|
FA2H
|
|
|
SLC25A22
|
|
|
ALG13
|
|
|
TRIM8
|
|
|
ADGRV1
|
|
|
SLC9A7
|
|
|
GPT2
|
|
|
PIGO
|
|
|
PIGY
|
|
|
PIGM
|
16767100 |
|
PGAP3
|
|
|
STX1B
|
|
|
EFHC1
|
|
|
RAB39B
|
|
|
NIPA1
|
|
|
EARS2
|
|
|
PTCHD1
|
|
|
SIK1
|
|
|
KCTD7
|
|
|
ARX
|
|
|
C9orf72
|
|
|
PIGW
|
|
|
ZFP57
|
|
|
ZNF81
|
|
|
HCN1
|
20384728 |
|
USP27X
|
|
|
SAMD12
|
|
|
D2HGDH
|
|
|
RNU4ATAC
|
|
|
ST20-MTHFS
|
|
| Single Seizure |
C0751110 |
ABAT
|
10407778 |
|
ACAT1
|
23266720 |
|
ACHE
|
27083141, 19941057 |
|
ADCYAP1
|
29673861 |
|
ADORA2A
|
19488739 |
|
ADRA1B
|
19125850 |
|
AGT
|
16771832 |
|
ALAD
|
19798568 |
|
ALPL
|
27466191, 7550313 |
|
APEX1
|
20446108 |
|
APOE
|
23266720 |
|
ATP7A
|
22815746 |
|
BCHE
|
20971807, 8667461, 18597747 |
|
BDNF
|
21269288, 9073163, 15781040 |
|
CAT
|
18096215, 20592767, 19616071 |
|
CCK
|
6265841 |
|
CHAT
|
19941057 |
|
CHRM1
|
12091480, 8028781, 10069499, 12713643, 11392617 |
|
CHRNA3
|
15275829 |
|
CHRNA4
|
16339034, 10942032 |
|
CHRNA5
|
9495872, 14996991 |
|
CHRNA7
|
9495872, 10942032, 10565853, 11893908, 14996991 |
|
CHRNB4
|
14996991, 15275829 |
|
CLU
|
23266720 |
|
ABCC2
|
16504477 |
|
CNR1
|
12954810 |
|
CRH
|
1700951, 1596084, 11074187, 8923670, 7821275, 1914160 |
|
CYP11A1
|
19125849 |
|
DRD1
|
1829682, 1451735 |
|
DRD2
|
11860278, 1829682, 7936204 |
|
DRD3
|
18566292 |
|
FAAH
|
25933444 |
|
FGF2
|
21269288 |
|
FOXG1
|
18627055 |
|
FOS
|
8923670, 9630518, 11955713, 12946577 |
|
GABRA5
|
8985701 |
|
GAD2
|
8985701, 8954991 |
|
GAMT
|
15651030 |
|
GNB3
|
18855531 |
|
GRIK1
|
12080343 |
|
HTR1A
|
2533336, 12646302, 16313900 |
|
HTR1B
|
2533336 |
|
IDH2
|
27469509 |
|
IFNB1
|
12432978 |
|
IL1B
|
16824509 |
|
IL6
|
12836160 |
|
IMPA1
|
17460611 |
|
INS
|
4115818, 14714756 |
|
KCNA2
|
25751627 |
|
KCNJ11
|
18021373 |
|
KCNQ2
|
27602407 |
|
LEP
|
17993459 |
|
LETM1
|
14706454 |
|
MECP2
|
19921286 |
|
MT3
|
23266720 |
|
NGF
|
18815271 |
|
NGFR
|
10436046 |
|
NOS1
|
8749039 |
|
NOS2
|
19559095 |
|
NPY
|
16194568, 18005069, 15451008 |
|
OPRK1
|
1675896, 18042875 |
|
OPRM1
|
1675896, 18042875 |
|
OXT
|
19397503, 5067144, 3923190, 5493616, 644406, 292422 |
|
PAM
|
19815072 |
|
PDYN
|
1675896 |
|
POLG
|
20138553, 20446108 |
|
POMC
|
2554740, 6324019, 7127082, 2169275, 2821097, 1656808 |
|
PRKCD
|
25895139 |
|
PTGS2
|
14518562 |
|
PVALB
|
18495095 |
|
REST
|
21905079 |
|
SLC1A1
|
23262392 |
|
SLC2A1
|
11603379, 10980529, 9462754 |
|
SLC6A1
|
11074187 |
|
SLC6A2
|
15911120 |
|
SLC8A1
|
20888801 |
|
SLC8A3
|
20888801 |
|
SOD2
|
20446108 |
|
SST
|
20134357, 16771832, 7913897 |
|
SSTR2
|
16771832 |
|
CDKL5
|
22264704 |
|
SYN2
|
18701217 |
|
TBCD
|
27666370 |
|
TCF4
|
18728071 |
|
TRH
|
15781040, 10443546 |
|
TSC1
|
28215400 |
|
TSC2
|
21062901, 28215400 |
|
SLC30A1
|
23266720 |
|
MPDZ
|
14960011 |
|
NRP2
|
18657176 |
|
SIGMAR1
|
11684152 |
|
PNKP
|
20118933 |
|
GHRL
|
19429016 |
|
RBFOX1
|
21623373 |
|
CNNM2
|
23027747 |
|
PLPPR1
|
23266720 |
|
SLC17A7
|
18495095 |
|
SLC12A5
|
20086212 |
|
MIB1
|
20943912 |
|
PIGM
|
16767100 |
|
HCN1
|
20384728 |
| SEIZURES, BENIGN FAMILIAL INFANTILE, 5 |
C4310728 |
KCNQ3
|
|
|
SCN8A
|
26677014, 24874546, 27210545 |
| Uncinate Seizures |
C0751113 |
KCNT1
|
23086397 |
| SEIZURES, BENIGN FAMILIAL INFANTILE, 2 |
C1853995 |
PRRT2
|
22101681, 22399141, 22209761, 22744660, 26598493, 22243967, 22120146, 22131361, 22623405 |
| Benign familial neonatal-infantile seizures |
140927 |
SCN2A
|
|
|
KCNQ2
|
|
