Genes associated with “epileptic encephalopathy”
How are genes scored? (0–100 composite)
Strong Candidates
73 genesdevelopmental and epileptic encephalopathy, 54
developmental and epileptic encephalopathy, 5
developmental and epileptic encephalopathy, 43
developmental and epileptic encephalopathy, 32
developmental and epileptic encephalopathy 101
developmental and epileptic encephalopathy, 19
developmental and epileptic encephalopathy, 26
developmental and epileptic encephalopathy, 59
developmental and epileptic encephalopathy, 42
developmental and epileptic encephalopathy, 28
developmental and epileptic encephalopathy, 8
developmental and epileptic encephalopathy, 2
developmental and epileptic encephalopathy, 53
developmental and epileptic encephalopathy, 1
structural maintenance of chromosomes 1A
developmental and epileptic encephalopathy, 41
developmental and epileptic encephalopathy, 23
developmental and epileptic encephalopathy, 17
developmental and epileptic encephalopathy, 14
developmental and epileptic encephalopathy, 47
Pitt-Hopkins-like syndrome 2
developmental and epileptic encephalopathy, 69
developmental and epileptic encephalopathy, 46
developmental and epileptic encephalopathy, 12
developmental and epileptic encephalopathy 92
developmental and epileptic encephalopathy, 24
multiple congenital anomalies-hypotonia-seizures syndrome 2
intellectual disability, autosomal dominant 55, with seizures
developmental and epileptic encephalopathy, 74
SLC35A2-congenital disorder of glycosylation
developmental and epileptic encephalopathy, 18
developmental and epileptic encephalopathy, 37
developmental and epileptic encephalopathy, 62
developmental and epileptic encephalopathy 91
developmental and epileptic encephalopathy, 25
developmental and epileptic encephalopathy, 3
developmental and epileptic encephalopathy, 50
developmental and epileptic encephalopathy, 44
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
cerebellar atrophy with seizures and variable developmental delay
developmental and epileptic encephalopathy, 33
developmental and epileptic encephalopathy 112
O'Donnell-Luria-Rodan syndrome
developmental and epileptic encephalopathy, 52
developmental and epileptic encephalopathy, 65
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
developmental and epileptic encephalopathy, 66
developmental and epileptic encephalopathy 103
ALG13 UDP-N-acetylglucosaminyltransferase subunit
developmental and epileptic encephalopathy, 84
developmental and epileptic encephalopathy, 16
neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
Consider
68 genesdevelopmental and epileptic encephalopathy, 49
developmental and epileptic encephalopathy, 67
developmental and epileptic encephalopathy, 48
developmental and epileptic encephalopathy, 15
developmental and epileptic encephalopathy, 57
developmental and epileptic encephalopathy, 21
developmental and epileptic encephalopathy 116
developmental and epileptic encephalopathy 93
developmental and epileptic encephalopathy, 60
developmental and epileptic encephalopathy, 71
developmental delay and seizures with or without movement abnormalities
developmental and epileptic encephalopathy, 75
developmental and epileptic encephalopathy, 55
multiple mitochondrial dysfunctions syndrome 2
developmental and epileptic encephalopathy 102
developmental and epileptic encephalopathy, 45
developmental and epileptic encephalopathy, 39
gamma-aminobutyric acid type A receptor subunit alpha2
intellectual disability, X-linked 49
developmental and epileptic encephalopathy, 72
filamin A
amelocerebrohypohidrotic syndrome
ubiquitin protein ligase E3A
ALG9-congenital disorder of glycosylation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13; DEE13
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45; DEE45
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53; DEE53
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57; DEE57
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7; DEE7
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93; DEE93
neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
developmental and epileptic encephalopathy, 63
combined oxidative phosphorylation defect type 27
solute carrier family 2 member 1
developmental and epileptic encephalopathy, 38
developmental and epileptic encephalopathy, 29
mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
intellectual disability, autosomal dominant 46
congenital disorder of glycosylation with defective fucosylation 2
developmental and epileptic encephalopathy, 30
multiple mitochondrial dysfunctions syndrome 6
methyl-CpG binding protein 2
peptidyl-tRNA hydrolase 1 homolog
adenylosuccinate lyase
developmental and epileptic encephalopathy, 58
developmental and epileptic encephalopathy, 51
ATPase plasma membrane Ca2+ transporting 2
developmental and epileptic encephalopathy, 61
developmental and epileptic encephalopathy, 40
developmental and epileptic encephalopathy, 70
developmental and epileptic encephalopathy, 73
Possible
100 genes — click to expand
phosphoglycerate dehydrogenase
developmental and epileptic encephalopathy 97
ubiquitin specific peptidase 19
developmental and epileptic encephalopathy 108
KINSSHIP syndrome
UDP-glucose pyrophosphorylase 2
potassium channel tetramerization domain containing 3
nucleoporin 214
La ribonucleoprotein 7, transcriptional regulator
WASP family member 1
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14; DEE14
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15; DEE15
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16; DEE16
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17; DEE17
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18; DEE18
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19; DEE19
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71; DEE71
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94; DEE94
tyrosine kinase non receptor 2
combined oxidative phosphorylation deficiency 35
neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.