| Epileptic encephalopathy |
C0543888 |
MTRFR
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PIGP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PPP3CA
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SCN2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SCN3A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SCN8A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SLC13A5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SLC25A22
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SLC35A2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SPTAN1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
STXBP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SYNGAP1
|
Causal
Pathogenic evidence from ClinVar
|
23141534 |
ClinVar |
|
TRIT1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
UGDH
|
Causal
Pathogenic evidence from ClinVar
|
32001716 |
ClinVar |
|
USP19
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
WASF1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
WWOX
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Early infantile epileptic encephalopathy |
1934 |
PIGP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SCN2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SLC25A22
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
STXBP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Early infantile epileptic encephalopathy with suppression bursts |
C0393706 |
PIGP
|
Causal
Pathogenic evidence from ClinVar
|
28334793 |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
28794249, 30779207 |
ClinVar |
|
SCN2A
|
Causal
Pathogenic evidence from ClinVar
|
23550958, 23935176 |
ClinVar |
|
SLC25A22
|
Causal
Pathogenic evidence from ClinVar
|
19780765 |
ClinVar |
|
STXBP1
|
Causal
Pathogenic evidence from ClinVar
|
18469812 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 |
C4539843 |
PIGP
|
Causal
Pathogenic evidence from ClinVar
|
28334793, 31139695 |
ClinVar |
| Encephalopathies |
C0085584 |
PPP3CA
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SCN3A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SCN8A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SLC13A5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
STXBP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SYNGAP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TRIT1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
WWOX
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 |
C4540199 |
PPP3CA
|
Causal
Pathogenic evidence from ClinVar
|
28942967, 29432562 |
ClinVar |
| Early Infantile Epileptic Encephalopathy 6 |
C4551549 |
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
10742094, 11359211, 11940708, 12083760, 12566275, 12754708, 12821740, 14504318, 14672992, 14738421, 15087100, 15263074, 15277629, 15508916, 15944908, 16122630, 16210358, 16458823, 16713913, 16713920, 17054684, 17054685, 17129991, 17166794, 17347258, 17507202, 17561957, 18413471, 18639757, 18930999, 19332696, 19522081, 19563458, 19589774, 19673951, 19783390, 20110217, 20431604, 20452746, 20491869, 20522430, 20550552, 20729507, 20879882, 21248271, 21371021, 21425109, 21555645, 21703448, 21719429, 21864321, 22071555, 22092154, 22150645, 22151702, 22409937, 22612257, 22780858, 23086956, 23195492, 23662938, 23708187, 23808377, 23884151, 24168886, 25818041, 26096185, 26993267, 27864847, 28544625 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 |
C3463992 |
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
28794249, 30779207 |
ClinVar |
|
WWOX
|
Causal
Pathogenic evidence from ClinVar
|
24456803 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 |
C4014430 |
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
1893099, 11940708, 12083760, 12566275, 12821740, 14504318, 14738421, 16210358, 16458823, 17054684, 17054685, 17347258, 17561957, 18076640, 18554359, 18804930, 18930999, 19589774, 21248271, 21371021, 21864321, 22050978, 23195492, 23808377, 23895530, 23934111, 24168886, 25348405, 25459969, 25669891, 25818041, 27465585, 27781031, 28102150, 28202706, 28708303, 29186148 |
ClinVar |
|
SCN8A
|
Causal
Pathogenic evidence from ClinVar
|
24888894, 25568300, 25951352, 26029160, 26647175, 26900580, 27779742, 28387369, 29121005 |
ClinVar |
|
SLC25A22
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
STXBP1
|
Causal
Pathogenic evidence from ClinVar
|
20887364, 23409955, 25356970, 26384463, 26865513, 26993267 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 |
C3150987 |
SCN2A
|
Causal
Pathogenic evidence from ClinVar
|
15028761, 15048894, 19783390, 19786696, 20956790, 22677033, 23033978, 23195492, 23360469, 23550958, 23662938, 23708187, 23935176, 23988467, 24463883, 24579881, 24659627, 24710820, 25457084, 25459969, 25772804, 25818041, 26138355, 26291284, 26648591, 26993267, 27781031, 27824329, 27864847, 27867041, 28379373, 28554332, 29186148, 29215089, 29625812, 29844171, 30144217, 30415926 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 |
C4693699 |
SCN3A
|
Causal
Pathogenic evidence from ClinVar
|
28235671, 29466837 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA |
C4014621 |
SLC13A5
|
Causal
Pathogenic evidence from ClinVar
|
24995870, 26384929, 26960556, 27261973, 27600704, 27913086, 28673551 |
ClinVar |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 |
C3150731 |
SPTAN1
|
Causal
Pathogenic evidence from ClinVar
|
20493457 |
ClinVar |
| Epileptic Encephalopathy, Early Infantile, 4 |
C2677326 |
STXBP1
|
Causal
Pathogenic evidence from ClinVar
|
18469812, 19557857, 20887364, 21762454, 21770924, 22612257, 23409955, 23662938, 23708187, 23934111, 24170257, 24189369, 24315539, 24623842, 24781210, 25418441, 25497044, 25714420, 25818041, 26514728, 26795593, 26865513, 26993267, 27069701, 27864847, 29903433 |
ClinVar |
