Træk
Repeated seizures without recovery between them
Klinisk navn: Status epilepticus
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.
Resumé
- Også kaldet
- Prolonged seizure, Repeated seizure without recovery
- Kropssystem
- Abnormality of the nervous system
Denne side som data
Tilføj .json til sidens adresse, eller bed om application/json, for at læse den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/status-epilepticus.json"
page <- fromJSON(url)
page$trait$nameLæs de gener, der er knyttet til Repeated seizures without recovery between them, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test207 gener knyttet til Repeated seizures without recovery between them
Ændringer i disse gener forårsager sjældne tilstande, hvor Repeated seizures without recovery between them ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| AGO1argonaute RISC component 1 | Altid | I 1 tilstand |
| APTXaprataxin | Altid | I 1 tilstand |
| ARV1ARV1 fatty acid homeostasis modulator | Altid | I 1 tilstand |
| BCL10BCL10 immune signaling adaptor | Altid | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Altid | I 2 tilstande |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altid | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Altid | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Altid | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Altid | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Altid | I 2 tilstande |
| DNM1Ldynamin 1L | Altid | I 2 tilstande |
| ECE1endothelin converting enzyme 1 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| GET4guided entry of tail-anchored proteins factor 4 | Altid | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KLHL20kelch like family member 20 | Altid | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Altid | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Altid | I 1 tilstand |
| MRM2mitochondrial rRNA methyltransferase 2 | Altid | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Altid | I 1 tilstand |
| NOTCH3notch receptor 3 | Altid | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Altid | I 2 tilstande |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 2 tilstande |
| PSAPprosaposin | Altid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Altid | I 5 tilstande |
| TANGO2transport and golgi organization 2 homolog | Altid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Altid | I 1 tilstand |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Altid | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Altid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altid | I 1 tilstand |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Altid | I 1 tilstand |
| VPS51VPS51 subunit of GARP complex | Altid | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Altid | I 1 tilstand |
| ARXaristaless related homeobox | Meget ofte (80–99 %) | I 1 tilstand |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Meget ofte (80–99 %) | I 2 tilstande |
| LGI1leucine rich glioma inactivated 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Meget ofte (80–99 %) | I 1 tilstand |
| PNPOpyridoxamine 5'-phosphate oxidase | Meget ofte (80–99 %) | I 1 tilstand |
Vis 167 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| RNU4ATACRNA, U4atac small nuclear | Meget ofte (80–99 %) | I 2 tilstande |
| SLC13A5solute carrier family 13 member 5 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC2A1solute carrier family 2 member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TIMM50translocase of inner mitochondrial membrane 50 | Meget ofte (80–99 %) | I 1 tilstand |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Ofte (30–79 %) | I 2 tilstande |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Ofte (30–79 %) | I 2 tilstande |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Ofte (30–79 %) | I 2 tilstande |
| AQP4aquaporin 4 | Ofte (30–79 %) | I 2 tilstande |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Ofte (30–79 %) | I 2 tilstande |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 4 tilstande |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ofte (30–79 %) | I 1 tilstand |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Ofte (30–79 %) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Ofte (30–79 %) | I 1 tilstand |
| DEAF1DEAF1 transcription factor | Ofte (30–79 %) | I 2 tilstande |
| DHCR2424-dehydrocholesterol reductase | Ofte (30–79 %) | I 1 tilstand |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| EPM2AEPM2A glucan phosphatase, laforin | Ofte (30–79 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Ofte (30–79 %) | I 2 tilstande |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Ofte (30–79 %) | I 2 tilstande |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Ofte (30–79 %) | I 2 tilstande |
| GLYCTKglycerate kinase | Ofte (30–79 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Ofte (30–79 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Ofte (30–79 %) | I 3 tilstande |
| IFNGinterferon gamma | Ofte (30–79 %) | I 1 tilstand |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Ofte (30–79 %) | I 1 tilstand |
| LMNB2lamin B2 | Ofte (30–79 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Ofte (30–79 %) | I 2 tilstande |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Ofte (30–79 %) | I 1 tilstand |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Ofte (30–79 %) | I 1 tilstand |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Ofte (30–79 %) | I 2 tilstande |
| PCDH19protocadherin 19 | Ofte (30–79 %) | I 2 tilstande |
| PLPBPpyridoxal phosphate binding protein | Ofte (30–79 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Ofte (30–79 %) | I 1 tilstand |
| PUM1pumilio RNA binding family member 1 | Ofte (30–79 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 2 tilstande |
| RNU2-2RNA, U2 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A12solute carrier family 25 member 12 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ofte (30–79 %) | I 2 tilstande |
| TSC1TSC complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| VARS1valyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Nogle gange (5–29 %) | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Nogle gange (5–29 %) | I 3 tilstande |
| ATXN10ataxin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Nogle gange (5–29 %) | I 3 tilstande |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Nogle gange (5–29 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| EFHC1EF-hand domain containing 1 | Nogle gange (5–29 %) | I 3 tilstande |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GPRC5BG protein-coupled receptor class C group 5 member B | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Nogle gange (5–29 %) | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Nogle gange (5–29 %) | I 2 tilstande |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| KIF11kinesin family member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| MLC1modulator of VRAC current 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Nogle gange (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Nogle gange (5–29 %) | I 2 tilstande |
| PET100PET100 cytochrome c oxidase chaperone | Nogle gange (5–29 %) | I 1 tilstand |
| PGM2L1phosphoglucomutase 2 like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Nogle gange (5–29 %) | I 2 tilstande |
| QARS1glutaminyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Nogle gange (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC19A3solute carrier family 19 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Nogle gange (5–29 %) | I 1 tilstand |
| SVBPsmall vasohibin binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Nogle gange (5–29 %) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TICAM1TIR domain containing adaptor molecule 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TLR3toll like receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF3TNF receptor associated factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| UCP2uncoupling protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UNC93B1unc-93B1 regulator of TLR signaling | Nogle gange (5–29 %) | I 1 tilstand |
| UPB1beta-ureidopropionase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Nogle gange (5–29 %) | I 2 tilstande |
| AARS1alanyl-tRNA synthetase 1 | Sjældent (1–4%) | I 1 tilstand |
| ACTL6Bactin like 6B | Sjældent (1–4%) | I 1 tilstand |
| ADGRV1adhesion G protein-coupled receptor V1 | Sjældent (1–4%) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Sjældent (1–4%) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Sjældent (1–4%) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Sjældent (1–4%) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Sjældent (1–4%) | I 1 tilstand |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Sjældent (1–4%) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Sjældent (1–4%) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Sjældent (1–4%) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Sjældent (1–4%) | I 1 tilstand |
| CLCN2chloride voltage-gated channel 2 | Sjældent (1–4%) | I 1 tilstand |
| CLTCclathrin heavy chain | Sjældent (1–4%) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Sjældent (1–4%) | I 1 tilstand |
| CPA6carboxypeptidase A6 | Sjældent (1–4%) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Sjældent (1–4%) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Sjældent (1–4%) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sjældent (1–4%) | I 1 tilstand |
| DNM1dynamin 1 | Sjældent (1–4%) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Sjældent (1–4%) | I 1 tilstand |
| FBXO28F-box protein 28 | Sjældent (1–4%) | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Sjældent (1–4%) | I 1 tilstand |
| FOXG1forkhead box G1 | Sjældent (1–4%) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Sjældent (1–4%) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Sjældent (1–4%) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sjældent (1–4%) | I 2 tilstande |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sjældent (1–4%) | I 2 tilstande |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Sjældent (1–4%) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Sjældent (1–4%) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sjældent (1–4%) | I 1 tilstand |
| JRKJrk helix-turn-helix protein | Sjældent (1–4%) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Sjældent (1–4%) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Sjældent (1–4%) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Sjældent (1–4%) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Sjældent (1–4%) | I 2 tilstande |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Sjældent (1–4%) | I 3 tilstande |
| NECAP1NECAP endocytosis associated 1 | Sjældent (1–4%) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Sjældent (1–4%) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Sjældent (1–4%) | I 3 tilstande |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjældent (1–4%) | I 4 tilstande |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Sjældent (1–4%) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sjældent (1–4%) | I 2 tilstande |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Sjældent (1–4%) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Sjældent (1–4%) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Sjældent (1–4%) | I 1 tilstand |
| STX1Bsyntaxin 1B | Sjældent (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjældent (1–4%) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Sjældent (1–4%) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Sjældent (1–4%) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Sjældent (1–4%) | I 2 tilstande |
| UBA5ubiquitin like modifier activating enzyme 5 | Sjældent (1–4%) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Sjældent (1–4%) | I 1 tilstand |
| AMACRalpha-methylacyl-CoA racemase | Ikke registreret | I 1 tilstand |
| CTSDcathepsin D | Ikke registreret | I 1 tilstand |
| FHfumarate hydratase | Ikke registreret | I 1 tilstand |
| ITPAinosine triphosphatase | Ikke registreret | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Ikke registreret | I 1 tilstand |
| PRODHproline dehydrogenase 1 | Ikke registreret | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Ikke registreret | I 1 tilstand |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Ikke registreret | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Snævrere træk
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.17-8666dff2.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger