Epileptic encephalopathy, early infantile

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Subtype of: Epileptic encephalopathy
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
epileptic encephalopathy early infantile
MONDO_0010246MONDO_0012812MONDO_0100062MONDO_0010396MONDO_0033374MONDO_0013389MONDO_0013801MONDO_0012245MONDO_0014533
PCDH19 Unknown
18469813 19214208 19752159 24896178 25529582 28462982 28669061 5116697
Open Targets —
STXBP1 Unknown
18469812 19557857 20876469 20887364 21062273 21204804 21364700 21762454 21770924 22211739 22596016 22787616 23409955 23531706 23533165 23593750 23763664 24095819 24170257 24189369 24315539 24550774 24623842 25008876 25418441 25631041 25714420 26212315 26384463 26514728 26658169 26865513 27069701 27184330 27799854 27799865 28944233 29264391 29544889 29718889 29896790 29929108 30654231 31151759 31344879 31387522 32105008 32521962 32815282 33632674 34390894 34392114 35002760 35002943 35007884 35190816 35655584 35663845 35841834 35851549 35937496 35998430
Open Targets
ACTL6B Unknown
30656450 31031012 31130285 28867141
Open Targets
CDKL5 Unknown
15492925 15499549 15689447 16611748 16813600 17993579 18809835 19241098 19396824 19793311 35934918
Open Targets —
CYFIP2 Unknown
12818175 20537992 25432536 27524794 29534297 29667327 30664714 31689829
Open Targets
DOCK7 Unknown
24814191 30771731 30807358 33471954 35806387
Open Targets
HCN1 Unknown
24747641
Open Targets
KCNB1 Unknown
25164438 29264397 31513310 36257979 39237446
Open Targets
LOC105372522 Unknown
20833646
Open Targets —
SCN8A Unknown
16236810 22365152 24352161 24874546 24888894 25239001 25568300 25725044 25799905 25951352 26235738 26235739 26252990 26553437 26677014 26933559 27210545 27659738 27875746 27900360 28084268 28676440 28702509 28923014 29121005 29128679 29235621 29263050
Open Targets
SLC25A22 Unknown
15592994 19780765 24596948 27604308 31279168 33821742
Open Targets
WWOX Unknown
24369382 24456803
Open Targets
All12 Causal0 Unknown12
Related Diseases Diseases that share the most curated genes with Epileptic encephalopathy, early infantile.
5 View disease cluster →
Dravet syndrome 2 shared genesSTXBP1, PCDH19 Related via 2 shared genes including STXBP1, PCDH19. West syndrome 4 shared genesWWOX, SCN8A, CDKL5, STXBP1 Related via 4 shared genes including WWOX, SCN8A, CDKL5. Genetic developmental and epileptic encephalopathy 4 shared genesWWOX, STXBP1, DOCK7, SLC25A22 Related via 4 shared genes including WWOX, STXBP1, DOCK7. Spinocerebellar ataxia, autosomal recessive 12 1 shared geneWWOX Related via 1 shared gene including WWOX. Intellectual developmental disorder speech ambulation 1 shared geneACTL6B Related via 1 shared gene including ACTL6B.