Genes associated with “status epilepticus”
How are genes scored? (0–100 composite)
Strong Candidates
6 genesConsider
48 genesglutamate ionotropic receptor NMDA type subunit 2D
gamma-aminobutyric acid type A receptor subunit gamma2
gamma-aminobutyric acid type A receptor subunit beta3
developmental and epileptic encephalopathy, 78
serine/arginine repetitive matrix 2
developmental and epileptic encephalopathy, 79
sodium voltage-gated channel alpha subunit 9
gamma-aminobutyric acid type A receptor subunit alpha3
developmental and epileptic encephalopathy 94
developmental and epileptic encephalopathy, 9
sodium voltage-gated channel alpha subunit 3
sodium voltage-gated channel alpha subunit 8
gamma-aminobutyric acid type A receptor subunit beta2
developmental and epileptic encephalopathy, 14
gamma-aminobutyric acid type A receptor subunit delta
sodium voltage-gated channel alpha subunit 5
sodium voltage-gated channel alpha subunit 11
sodium voltage-gated channel alpha subunit 4
calcium voltage-gated channel subunit alpha1 B
congenital disorder of glycosylation, type IAA
hereditary cryohydrocytosis with reduced stomatin
GM3 synthase deficiency
developmental and epileptic encephalopathy 99
syndromic X-linked intellectual disability Lubs type
developmental and epileptic encephalopathy, 24
mitochondrial DNA depletion syndrome 4a
developmental and epileptic encephalopathy, 42
gamma-aminobutyric acid type A receptor subunit gamma1
gamma-aminobutyric acid type A receptor subunit gamma3
beta-ureidopropionase deficiency
galactosylceramidase
Possible
255 genes — click to expand
developmental and epileptic encephalopathy, 4
mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
developmental and epileptic encephalopathy, 41
developmental and epileptic encephalopathy, 64
glutamate ionotropic receptor NMDA type subunit 2A
glutamate ionotropic receptor NMDA type subunit 1
developmental and epileptic encephalopathy, 50
developmental and epileptic encephalopathy, 31A
developmental and epileptic encephalopathy, 28
sodium voltage-gated channel alpha subunit 7
sodium voltage-gated channel alpha subunit 10
developmental and epileptic encephalopathy, 47
bilateral parasagittal parieto-occipital polymicrogyria
hypomagnesemia, seizures, and intellectual disability 2
gamma-aminobutyric acid type A receptor subunit beta1
developmental and epileptic encephalopathy, 69
coenzyme Q10 deficiency, primary, 3
developmental and epileptic encephalopathy, 53
neuronal ceroid lipofuscinosis 10
glycosylphosphatidylinositol biosynthesis defect 18
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
combined oxidative phosphorylation defect type 27
developmental and epileptic encephalopathy, 25
alpha-methylacyl-CoA racemase deficiency
tumor protein p53
microcephalic osteodysplastic primordial dwarfism type I
multiple congenital anomalies-hypotonia-seizures syndrome 2
hyperprolinemia type 1
developmental and epileptic encephalopathy, 35
intellectual disability, autosomal dominant 42
gamma-aminobutyric acid type A receptor subunit alpha4
gamma-aminobutyric acid type A receptor subunit alpha6
gamma-aminobutyric acid type A receptor subunit epsilon
gamma-aminobutyric acid type A receptor subunit pi
gamma-aminobutyric acid type A receptor subunit theta
combined oxidative phosphorylation defect type 24
developmental and epileptic encephalopathy 91
neurodevelopmental disorder with or without seizures and gait abnormalities
developmental and epileptic encephalopathy, 16
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
X-linked intellectual disability, Cantagrel type
PEHO-like syndrome
ZTTK syndrome
synaptic vesicle glycoprotein 2A
encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY; AMACRD
AMYLOIDOSIS, HEREDITARY SYSTEMIC 1; AMYLD1
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11; DEE11
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1; EMPF1
EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT; EPEO4
HYPERPROLINEMIA, TYPE I; HYRPRO1
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A
MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH
SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98; XLID98
developmental and epileptic encephalopathy, 48
neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
immunodeficiency 37
cortical dysplasia-focal epilepsy syndrome
coenzyme Q10 deficiency, primary, 1
mitochondrial complex IV deficiency, nuclear type 3
multiple mitochondrial dysfunctions syndrome 9b
developmental and epileptic encephalopathy, 54
developmental and epileptic encephalopathy 103
proximal myopathy with extrapyramidal signs
spastic paraplegia 93, autosomal recessive
Gaucher disease due to saposin C deficiency
COG8-congenital disorder of glycosylation
glutamate ionotropic receptor NMDA type subunit 2C
glutamate ionotropic receptor NMDA type subunit 3A
glutamate ionotropic receptor NMDA type subunit 3B
mitochondrial DNA depletion syndrome 8a
developmental and epileptic encephalopathy, 38
developmental and epileptic encephalopathy 98
developmental and epileptic encephalopathy, 58
Hirschsprung disease, cardiac defects, and autonomic dysfunction
developmental and epileptic encephalopathy 111
neonatal-onset encephalopathy with rigidity and seizures
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
carbonic anhydrase 2
kinase insert domain receptor
developmental and epileptic encephalopathy 112
mitochondrial complex IV deficiency, nuclear type 12
Kohlschutter-Tonz syndrome-like
progressive myoclonic epilepsy type 3
developmental and epileptic encephalopathy, 66
rhizomelic chondrodysplasia punctata type 5
autoinflammation with arthritis and vasculitis
developmental and epileptic encephalopathy, 34
progressive myoclonic epilepsy type 9
mitochondrial complex V (ATP synthase) deficiency, nuclear type 7
mitochondrial complex I deficiency, nuclear type 33
progressive myoclonic epilepsy type 6
developmental and epileptic encephalopathy, 56
Liang-Wang syndrome
intellectual disability-epilepsy-extrapyramidal syndrome
ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Jeffries-Lakhani neurodevelopmental syndrome
mitochondrial complex I deficiency, nuclear type 37
developmental and epileptic encephalopathy, 39
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.