| Encephalopathies |
C0085584 |
AP3B2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ATP1A3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FGF12
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GABRB3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HCN1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KCNB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KCNQ2
|
Causal
Pathogenic evidence from ClinVar
|
27602407 |
ClinVar |
| Epileptic encephalopathy |
C0543888 |
AP3B2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ARX
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ATP7B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CACNA1E
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CACNA2D2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CDKL5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FGF12
|
Causal
Pathogenic evidence from ClinVar
|
27872899 |
ClinVar |
|
FOLR1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GABBR2
|
Causal
Pathogenic evidence from ClinVar
|
25262651, 28856709, 29377213 |
ClinVar |
|
GABRB3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GNAO1
|
Causal
Pathogenic evidence from ClinVar
|
23993195 |
ClinVar |
|
HCN1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HNRNPU
|
Causal
Pathogenic evidence from ClinVar
|
23708187, 23934111, 28815871 |
ClinVar |
|
KCNB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KCNQ2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 |
C4310637 |
AP3B2
|
Causal
Pathogenic evidence from ClinVar
|
27889060 |
ClinVar |
| Early infantile epileptic encephalopathy |
1934 |
ARX
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CDKL5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GNAO1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Early infantile epileptic encephalopathy with suppression bursts |
C0393706 |
ARX
|
Causal
Pathogenic evidence from ClinVar
|
18462864, 19439424, 20506206, 22196487, 23583054, 25951140, 29056246, 29190809, 29655203, 29924869 |
ClinVar |
|
CDKL5
|
Causal
Pathogenic evidence from ClinVar
|
22196487 |
ClinVar |
|
GNAO1
|
Causal
Pathogenic evidence from ClinVar
|
9050846, 23993195, 25262651, 25966631, 26485252, 27072799, 27476654, 28202424, 28357411, 28503590, 28628939, 28747448, 29390993 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 |
C3463992 |
ARX
|
Causal
Pathogenic evidence from ClinVar
|
11889467, 11971879, 12376946, 12379852, 12874418, 15533998, 15726411, 16235064, 17331656, 17490853, 17664401, 18462864, 19439424, 19507262, 19606478, 20506206, 21204215, 22922607, 23246292, 23583054, 24781210, 25951140, 26029707, 27864847, 29056246, 29190809, 29655203, 29924869 |
ClinVar |
|
GNAO1
|
Causal
Pathogenic evidence from ClinVar
|
9050846, 23993195, 25262651, 25966631, 26485252, 27072799, 27476654, 28202424, 28357411, 28503590, 28628939, 28747448, 29390993 |
ClinVar |
|
HCN1
|
Causal
Pathogenic evidence from ClinVar
|
24747641 |
ClinVar |
|
KCNQ2
|
Causal
Pathogenic evidence from ClinVar
|
16235065 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 |
C4748988 |
CACNA1E
|
Causal
Pathogenic evidence from ClinVar
|
30343943 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 |
C4014430 |
CACNA2D2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GNAO1
|
Causal
Pathogenic evidence from ClinVar
|
25966631, 26060304, 26485252, 27068059, 27625011, 27864847, 28357411, 28688840, 29390993 |
ClinVar |
|
GOT2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HCN1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KCNQ2
|
Causal
Pathogenic evidence from ClinVar
|
14534157, 14985406, 23692823, 23934111, 25473036, 25740509, 25982755, 27779742 |
ClinVar |
| CDKL5-related epileptic encephalopathy |
505652 |
CDKL5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 |
C1839333 |
CDKL5
|
Causal
Pathogenic evidence from ClinVar
|
12736870, 15492925, 15499549, 15689447, 15917271, 16015284, 16611748, 16935860, 17993579, 18790821, 18809835, 19241098, 19253388, 19793311, 21154482, 22872100, 23662938, 23708187, 24564546, 26993267, 27864847, 29016850, 29474534 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 |
C4310685 |
FGF12
|
Causal
Pathogenic evidence from ClinVar
|
27164707, 27830185, 27872899 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 |
C4693550 |
GABBR2
|
Causal
Pathogenic evidence from ClinVar
|
28856709, 29100083, 29369404 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 |
C4310712 |
GABRB3
|
Causal
Pathogenic evidence from ClinVar
|
23934111, 25356899, 26950270, 26993267, 27476654, 27864847 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 |
C3809606 |
GNAO1
|
Causal
Pathogenic evidence from ClinVar
|
23993195, 25966631, 26485252, 27476654, 27864847, 29961512 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 |
C4014531 |
HCN1
|
Causal
Pathogenic evidence from ClinVar
|
24747641, 27864847, 30351409 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 |
C4479319 |
HNRNPU
|
Causal
Pathogenic evidence from ClinVar
|
23708187, 27652284 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 |
C4015119 |
KCNB1
|
Causal
Pathogenic evidence from ClinVar
|
25164438, 26477325, 26503721, 26648591, 28252636, 28806457, 29264397 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 |
C3150986 |
KCNQ2
|
Causal
Pathogenic evidence from ClinVar
|
9425895, 9430594, 11572947, 12742592, 12754513, 15249611, 16039833, 17872363, 18353052, 22275249, 22926866, 23291709, 23440208, 23621294, 23692823, 23708187, 23934111, 24107868, 24318194, 24371303, 24463883, 25052858, 25092550, 25566516, 25740509, 25818041, 25880994, 25959266, 25982755, 26138355, 26993267, 27864847, 28133863, 28687180 |
ClinVar |
| KCNQ2-related epileptic encephalopathy |
439218 |
KCNQ2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
