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genetic developmental and epileptic encephalopathy
genetic developmental and epileptic encephalopathy
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
genetic developmental and epileptic encephalopathy
GNAO1
Causal
—
ClinGen
Rap1 signaling pathway
Hormone signaling
Circadian entrainment
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Long-term depression
Estrogen signaling pathway
Melanogenesis
Oxytocin signaling pathway
Relaxin signaling pathway
Morphine addiction
Alcoholism
Chagas disease
Toxoplasmosis
Human cytomegalovirus infection
Human immunodeficiency virus 1 infection
PLC beta mediated events
G-protein activation
Ca2+ pathway
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
+21 more
SCN1B
Causal
—
ClinGen
Adrenergic signaling in cardiomyocytes
Phase 0 - rapid depolarisation
All
36
Causal
2
Unknown
34
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
2
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Developmental and epileptic encephalopathy
36 shared genes
WWOX, ABAT, CACNA1E, CUX2, PACS2, SIK1, SYNJ1, SZT2, GLUL, RYR3, ITPA, GABRB3 +24 more
Related via 36 shared genes including WWOX, ABAT, CACNA1E.
West syndrome
8 shared genes
WWOX, SIK1, ARX, SCN1A, DNM1, STXBP1, PLCB1, SPTAN1
Related via 8 shared genes including WWOX, SIK1, ARX.
Rolandic epilepsy
8 shared genes
WWOX, SZT2, SCN1A, SCN1B, KCNQ3, CSTB, PLCB1, SPTAN1
Related via 8 shared genes including WWOX, SZT2, SCN1A.
Epilepsy of infancy with migrating focal seizures
4 shared genes
SCN1A, SLC12A5, PLCB1, SLC25A22
Related via 4 shared genes including SCN1A, SLC12A5, PLCB1.
Malignant migrating partial seizures of infancy
4 shared genes
SCN1A, SLC12A5, PLCB1, SLC25A22
Related via 4 shared genes including SCN1A, SLC12A5, PLCB1.
1
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