Epileptic encephalopathy

Disease Term Disease ID Gene Symbol References
Encephalopathies C0085584 AARS1
ACY1
ALB 15923801
AMT
APP 11800653
ASNS
ATP1A2 19838529
ATP1A3
ATP5F1A
ATP5F1D
ATP6V1A
CACNA1A
CACNA1B
SLC25A20
CHD2
CLTC
COX15
CP 19005224
CPT2
CYC1
CYP2A6 22498344
DGUOK
DLD
DNM1
EEF1A2
FGF12
GABRB2
GABRB3
GABRG2
GBA
GCDH
GCSH
GLDC
GLUL
GPR35
GRIN2D
HMGCL
IFNB1 8615598
IFNG 18282668
ITPA
KCNA2
KCNB1
KCNQ2 27602407
MAT1A 8770875
MECP2
MPO 23593274
MST1
TRNC
COX1
COX2
COX3
CYTB
ND1
ND2
ND3
ND5
ND6
TRNF
TRNK
TRNL1
TRNQ
TRNS1
TRNS2
TRNV
TRNW
NDUFA1
NDUFA6
NDUFB3
NDUFB9
NDUFB10
NDUFS1
NDUFS2
NDUFS3
NDUFV1
NDUFS4
NDUFS6
NDUFS8
NDUFV2
NOTCH3 19528524
NTRK2
OGG1 24075420
OTC 8778603
SERPINI1
PPP3CA
MAPK10
PRNP
RANBP2
SCN1A
SCN3A
SCN8A
SCO1 23345593
SLC1A1 22575539
SLC1A2
SLC2A1
SLC6A9
SLC25A1
SLC22A5
STXBP1
TBCD
TBCE
TCF4
TGFB1 29483653
TH 7842013
TSC1 21062901
TSC2 21062901
TUFM
TYMS 20714149
YWHAG
AP3B2
RNASET2 19525954
FADD
SUCLG1
SYNGAP1
CDK5R1 15665076
SYNJ1
KYNU
SLC6A5 25480793
DNM1L
TSFM
LAMC3 21572413
SLC35A1
STAMBP 23542699
CLP1
LIAS
TREX1 16845398
CNKSR2
TRAK1
CUX2
SZT2
ETHE1
AMACR
NDUFAF3
PARS2
NECAP1
FBXL4
HIBCH
BSCL2
CYFIP2
COQ2
ACAD9
NDUFAF4
NDUFAF1
TRAPPC12
TIMMDC1
ACTL6B
WWOX
NDUFB11
UGT1A1
TRIT1
TMEM70
PNPO
FOXRED1
NAXD
TMEM126B
TWNK
COQ9
ARV1
NDUFAF5
RNASEH2B
UBA5
DHDDS
CTC1 22267198
NUBPL
SLC19A3
CLPB
RNASEH2C
COG8
GPT2
ATAD1
SERAC1
LYRM7
NDUFAF2
TIMM50
TBCK
NUS1
NDUFA11
NAXE
GLYCTK
NADK2
SIK1
NAGS
ACSF3
IBA57
SLC13A5
HCN1
NDUFS7
LIPT2
Epileptic encephalopathy C0543888 AARS1
ADSL 27604308
ATP6V1A
ATP7B
CACNA1A 29366381, 25735478
CACNA1B
CACNA1E
CAD
CHD2 23708187
SLC25A10 29211846
DNM1
EEF1A2
FGF12 27872899
FLNA 14988809, 28425981
FOLR1
MTOR 28892148
GABRA1 23934111
GABRB1
GABRB2
GABRB3
GABRG2
GLS
GNAO1 23993195
GRIN1 27164704, 23934111, 28051072
GRIN2B 23934111
GRIN2D
HNRNPU 23934111, 28815871, 23708187
KCNA2
KCNB1
KCNQ2
MDH2
NEUROD2
NTRK2
PIGA
PPP3CA
MAPK10 23329067
RYR3 25262651, 29667327
SCN1A
SCN1B
SCN2A
SCN3A
SCN8A
SCN9A
ST3GAL3
SLC1A2 27476654
SLC2A1 27604308
SLC6A1
SOX5
SPTAN1
CDKL5
STXBP1
SLC35A2
UGDH 32001716
VARS1
AIMP2 26795593
NUP214 30758658
CDK2AP1
AP3B2
SMC1A 16604071, 26358754
SLC25A12
DPM2
SYNGAP1 23141534
SYNJ1
WASF1
CACNA2D2
PLAA 28007986
NRXN1
GABBR2 29377213, 28856709, 25262651
MAGI2 27932480
GPHN 27604308
CNPY3
CPLX1
USP19
PNKP
RNF13
ZNF292
ARHGEF9
PLCB1
PACS2
DENND5A 27431290, 27866705
CUX2
NEDD4L 23934111
SZT2
FRRS1L
CIZ1
PARS2
NECAP1
CNTNAP2
PHGDH
CYFIP2
KCTD3 25558065
PIGP
ACTL6B 30237576
WWOX
ADAM22
TRIT1
PNPO
TWNK
TBC1D24
KCNT1
GUF1
ARV1
CARS2
ROGDI
SLC25A22
ALG9
ALG13 27604308, 22492991
DHDDS
DOCK7
MTRFR
NUS1
SIK1
ARX
FCSK
PHACTR1
CPEB1-AS1
SLC13A5
KCNT2
HCN1
BOLA3
SCN1A-AS1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 C4225361 AARS1 28493438, 25817015
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 C4693934 ATP6V1A 29668857, 28065471
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 C4310716 CACNA1A 23934111, 10371528, 24420976, 28742085, 9488686, 11971066, 16325861, 27476654, 27066515, 23038654, 19486177, 24270521, 28169007, 25274239, 27250579, 17575281, 8898206, 11814735, 10024348, 26795593, 25735478, 23071170
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 C4748988 CACNA1E 30343943
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 C4225320 CAD 28007989, 25678555, 28087732, 30914295
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET C3809278 CHD2 24207121, 28074849, 25356899, 23708187, 26795593
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 C3463992 CSNK1E
DNM1 26611353, 26648591, 26795593, 26125563, 20700442, 8101525, 27066543, 25779878, 23934111, 25262651
GNAO1 28202424, 27476654, 25966631, 29390993, 28628939, 28357411, 28503590, 27072799, 9050846, 23993195, 25262651, 28747448, 26485252
KCNQ2 16235065
SCN1A 30779207, 28794249
SYNJ1
WWOX 24456803
TBC1D24 24291220, 27502353, 27281533, 29100083
SIK1 27966542, 25839329
ARX 29056246, 25951140, 20506206, 29190809, 19507262, 11971879, 23583054, 21204215, 19606478, 17664401, 12376946, 15726411, 12379852, 12874418, 16235064, 24781210, 11889467, 29655203, 15533998, 27864847, 26029707, 17331656, 22922607, 23246292, 29924869, 18462864, 19439424, 17490853
HCN1 24747641
TPTEP2-CSNK1E
Early infantile epileptic encephalopathy with suppression bursts C0393706 DNM1 26611353, 25779878, 26125563, 25262651, 27066543, 23934111, 26648591, 8101525, 26795593, 20700442
GNAO1 23993195, 28628939, 28503590, 27476654, 28747448, 28202424, 29390993, 9050846, 25262651, 28357411, 27072799, 25966631, 26485252
KCNA1 30055040
NEUROD2 30323019
SCN1A 30779207, 28794249
SCN2A 23550958, 23935176
CDKL5 22196487
STXBP1 18469812
CASK 22709267
PIGQ 24463883
PNKP 20118933
PIGP 28334793
SLC25A22 19780765
TRIM8 30244534
SIK1 25839329, 27966542
ARX 18462864, 19439424, 25951140, 20506206, 23583054, 29655203, 29056246, 22196487, 29190809, 29924869
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 C4225357 DNM1 27476654, 25262651, 27806796, 28667181, 25533962, 27066543
CIZ1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 C4225337 EEF1A2 27441201, 30109124, 26795593, 26682508, 23033978, 28378778, 28911200, 3066688, 24697219, 23647072
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 C4310685 FGF12 27872899, 27164707, 27830185
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 C3810400 GABRA1 24623842, 27864847
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 C4310691 GABRB1 27273810, 23934111, 26950270
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 C4693362 GABRB2 27789573, 29100083, 25124326
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 C4310712 GABRB3 23934111, 26950270, 25356899, 26993267, 27864847, 27476654
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 C3809606 GNAO1 23993195, 27476654, 26485252, 27864847, 25966631, 29961512
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 C4014430 GNAO1 25966631, 27864847, 26485252, 26060304, 29390993, 27068059, 28688840, 27625011, 28357411
GOT2
KCNQ2 14534157, 25740509, 25473036, 27779742, 23692823, 25982755, 23934111, 14985406
SCN1A 25348405, 12566275, 12083760, 1893099, 17054684, 17561957, 21248271, 12821740, 18804930, 21371021, 14738421, 25818041, 16458823, 23808377, 19589774, 27465585, 24168886, 17347258, 18076640, 22050978, 28708303, 23195492, 25669891, 28102150, 28202706, 17054685, 27781031, 23934111, 23895530, 18554359, 16210358, 18930999, 21864321, 25459969, 14504318, 11940708, 29186148
SCN8A 24888894, 29121005, 26647175, 26900580, 27779742, 25568300, 28387369, 26029160, 25951352
STXBP1 26865513, 20887364, 26993267, 26384463, 25356970, 23409955
CACNA2D2
NECAP1 30626896
SLC25A22
HCN1
SCN1A-AS1 12083760, 25669891, 17054684, 17054685, 23934111, 22050978, 19589774, 21371021, 18804930, 21248271, 18554359, 28708303, 17347258, 25459969, 23895530, 29186148, 25818041, 27465585, 16210358, 12821740, 23808377, 28102150, 25348405, 18076640, 27781031, 16458823, 21864321, 23195492, 1893099, 24168886, 12566275, 18930999, 28202706, 11940708, 17561957, 14504318, 14738421
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 C4015316 GRIN2B 27839871, 27864847, 27572814, 24272827
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 C4310687 GRIN2D 27616483, 30280376
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 C4479319 HNRNPU 23708187, 27652284
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 C4225256 ITPA 27604308, 26224535, 19498443
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 C4225350 KCNA2 25751627, 27457812, 25477152, 28032718, 27543892, 27733563
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 C4015119 KCNB1 25164438, 26477325, 28806457, 29264397, 26503721, 26648591, 28252636
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 C3150986 KCNQ2 25818041, 24463883, 25052858, 22275249, 24371303, 23621294, 12754513, 12742592, 11572947, 23708187, 26993267, 25982755, 25880994, 25092550, 27864847, 25740509, 25959266, 16039833, 23934111, 9425895, 28687180, 23291709, 17872363, 18353052, 28133863, 22926866, 24107868, 26138355, 23440208, 24318194, 9430594, 25566516, 15249611, 23692823
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 C4479208 MDH2 27989324
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 C4693367 NTRK2 29100083, 15494731, 27884935
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 C4540199 PPP3CA 28942967, 29432562
Early Infantile Epileptic Encephalopathy 6 C4551549 SCN1A 20522430, 12821740, 23086956, 12083760, 15944908, 23195492, 12754708, 19589774, 20431604, 20729507, 14672992, 15508916, 19332696, 17054684, 16713920, 19673951, 27864847, 19783390, 26993267, 21425109, 20879882, 12566275, 22150645, 22612257, 15087100, 17129991, 22151702, 18930999, 17347258, 21248271, 21719429, 17054685, 21864321, 18639757, 11940708, 10742094, 19522081, 22092154, 28544625, 23884151, 17561957, 20491869, 15263074, 11359211, 16713913, 16122630, 16458823, 22071555, 17166794, 18413471, 16210358, 23662938, 20110217, 23708187, 14738421, 25818041, 23808377, 21371021, 20452746, 15277629, 22409937, 26096185, 19563458, 21555645, 24168886, 21703448, 20550552, 14504318, 17507202, 22780858
SCN9A 23895530
SNX27
SCN1A-AS1 26096185, 23195492, 19673951, 11359211, 20879882, 20431604, 12083760, 15277629, 21703448, 21864321, 21371021, 16713920, 15508916, 14738421, 17054685, 21425109, 12566275, 17347258, 22071555, 16713913, 19589774, 22151702, 19522081, 15263074, 23808377, 16458823, 12754708, 23086956, 22409937, 22780858, 11940708, 20522430, 20491869, 21248271, 22612257, 17166794, 17561957, 18930999, 17054684, 22150645, 23884151, 21719429, 24168886, 20550552, 12821740
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 C4479236 SCN1B 9697698, 23148524, 19710327, 16301704, 27761167
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 C3150987 SCN2A 30415926, 24579881, 26993267, 27781031, 29844171, 23935176, 25457084, 24659627, 19786696, 15048894, 28554332, 23708187, 23033978, 15028761, 30144217, 28379373, 26291284, 19783390, 23662938, 26648591, 24710820, 27867041, 25772804, 23550958, 27864847, 29215089, 29625812, 22677033, 23195492, 24463883, 25459969, 20956790, 29186148, 26138355, 25818041, 23988467, 23360469, 27824329
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 C4693699 SCN3A 28235671, 29466837
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 C3554316 ST3GAL3 23252400, 31584066
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 C4310717 SLC1A2 24214974, 28777935, 23107647, 28915517, 27476654
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 C3150731 SPTAN1 20493457
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 C1839333 CDKL5 19241098, 16611748, 15917271, 16015284, 22872100, 19793311, 27864847, 21154482, 16935860, 18790821, 15492925, 15499549, 19253388, 15689447, 23662938, 26993267, 29016850, 17993579, 29474534, 12736870, 23708187, 24564546, 18809835
Epileptic Encephalopathy, Early Infantile, 4 C2677326 STXBP1 22612257, 18469812, 23662938, 24315539, 26993267, 24781210, 24623842, 26865513, 25418441, 19557857, 29903433, 27864847, 23409955, 23708187, 24189369, 23934111, 21762454, 25818041, 27069701, 25714420, 26795593, 21770924, 20887364, 24170257, 26514728, 25497044
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 C4540034 YWHAG 28777935, 27288018, 25363760
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 C4310637 AP3B2 27889060
CPEB1-AS1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 C4479313 SYNJ1 25316601, 27435091
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 C4693550 GABBR2 29100083, 28856709, 29369404
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60 C4693663 CNPY3 29394991
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 C4693810 CPLX1 26539891, 28422131
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 C3150988 PNKP 25558065, 25728773, 23224214, 22508754, 20118933
PLCB1 20833646
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 C4748688 TRAK1 28940097, 29846532, 28364549
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 C4693899 RHOBTB2 29768694, 29276004, 26740508
Hyperekplexia and Epilepsy C1845102 ARHGEF9 15215304, 18615734, 25678704, 22612257, 17893116, 28589176, 28708303, 23033978, 21633362, 26834553
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 C4748070 PACS2 28867141, 29656858
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49 C4310635 DENND5A 27866705, 27431290
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 C4748341 CUX2 23934111, 29795476, 29630738, 23020937, 28628100
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18 C3809624 SZT2 24324832, 23932106
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 C4310770 FRRS1L 30525197, 27239025, 30914295, 27236917
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 C4693925 CYFIP2 29534297, 29667327, 30664714
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 C4539843 PIGP 28334793, 31139695
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 C4749023 TBC1D7
PHACTR1 27457812, 30256902, 23033978
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 C4015519 WWOX 24456803, 25411445
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61 C4693688 ADAM22 30237576, 27066583
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 C3809173 TBC1D24 28428906, 28292732, 25769375, 23526554, 27541164, 20727515
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 C4225257 SLC12A5 26333769, 27436767
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 C3554195 KCNT1 26140313, 23086396, 29100083, 25326637, 24591078, 23086397, 27029629, 26597493, 24029078, 25590979, 26122718, 26648591, 27864847, 29186148, 26993267, 25482562, 23708187, 26269628, 27652284, 24463883, 26740507, 26369628
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40 C4310737 GUF1 26486472
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38 C4310762 ARV1 27270415, 25558065, 26479315
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36 C3550904 ALG13 26138355, 23934111, 26482601, 24781210, 27476654, 22492991, 23033978, 25732998, 24896178
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 C4310700 UBA5 27545681, 27545674
NPHP3-ACAD11 27545681, 27545674
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 C4014492 DOCK7 24814191
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30 C4225360 SIK1 25839329
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA C4014621 SLC13A5 26384929, 27913086, 24995870, 26960556, 28673551, 27600704, 27261973
C17orf100 27261973, 28673551
ALOX15P1 28673551, 27261973
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57 C4540411 KCNT2 29069600, 29740868
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 C4014531 HCN1 24747641, 30351409, 27864847
Early infantile epileptic encephalopathy 1934 DMXL2
NEUROD2
SCN2A
CDKL5
STXBP1
ARX
CASK
PNKP
GNAO1
PIGQ
SIK1
SCN1B
SLC25A22
KCNA1
TRIM8
PIGP
KCNQ2-related epileptic encephalopathy 439218 KCNQ2
CDKL5-related epileptic encephalopathy 505652 CDKL5
RNF13-related severe early-onset epileptic encephalopathy 544503 RNF13
Neonatal epileptic encephalopathy due to glutaminase deficiency 557064 GLS