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Egenskap
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.
Sammendrag
- Også kalt
- Prolonged seizure, Repeated seizure without recovery
- Kroppssystem
- Abnormality of the nervous system
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Få mitt Genome Test207 gener knyttet til Repeated seizures without recovery between them
Endringer i disse genene forårsaker sjeldne tilstander der Repeated seizures without recovery between them forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AGO1argonaute RISC component 1 | Alltid | I 1 tilstand |
| APTXaprataxin | Alltid | I 1 tilstand |
| ARV1ARV1 fatty acid homeostasis modulator | Alltid | I 1 tilstand |
| BCL10BCL10 immune signaling adaptor | Alltid | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Alltid | I 2 tilstander |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alltid | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Alltid | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Alltid | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Alltid | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Alltid | I 2 tilstander |
| DNM1Ldynamin 1L | Alltid | I 2 tilstander |
| ECE1endothelin converting enzyme 1 | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| GET4guided entry of tail-anchored proteins factor 4 | Alltid | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KLHL20kelch like family member 20 | Alltid | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Alltid | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Alltid | I 1 tilstand |
| MRM2mitochondrial rRNA methyltransferase 2 | Alltid | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Alltid | I 1 tilstand |
| NOTCH3notch receptor 3 | Alltid | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Alltid | I 2 tilstander |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 2 tilstander |
| PSAPprosaposin | Alltid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Alltid | I 5 tilstander |
| TANGO2transport and golgi organization 2 homolog | Alltid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Alltid | I 1 tilstand |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Alltid | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Alltid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Alltid | I 1 tilstand |
| VPS51VPS51 subunit of GARP complex | Alltid | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Alltid | I 1 tilstand |
| ARXaristaless related homeobox | Svært ofte (80–99 %) | I 1 tilstand |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Svært ofte (80–99 %) | I 2 tilstander |
| LGI1leucine rich glioma inactivated 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Svært ofte (80–99 %) | I 1 tilstand |
| PNPOpyridoxamine 5'-phosphate oxidase | Svært ofte (80–99 %) | I 1 tilstand |
Vis 167 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 2 tilstander |
| SLC13A5solute carrier family 13 member 5 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC2A1solute carrier family 2 member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TIMM50translocase of inner mitochondrial membrane 50 | Svært ofte (80–99 %) | I 1 tilstand |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Ofte (30–79 %) | I 2 tilstander |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Ofte (30–79 %) | I 2 tilstander |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Ofte (30–79 %) | I 2 tilstander |
| AQP4aquaporin 4 | Ofte (30–79 %) | I 2 tilstander |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Ofte (30–79 %) | I 2 tilstander |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| 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 tilstander |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Ofte (30–79 %) | I 2 tilstander |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| PCDH19protocadherin 19 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 3 tilstander |
| ATXN10ataxin 10 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Noen ganger (5–29 %) | I 3 tilstander |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Noen ganger (5–29 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Noen ganger (5–29 %) | I 1 tilstand |
| EFHC1EF-hand domain containing 1 | Noen ganger (5–29 %) | I 3 tilstander |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GPRC5BG protein-coupled receptor class C group 5 member B | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Noen ganger (5–29 %) | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Noen ganger (5–29 %) | I 2 tilstander |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| KIF11kinesin family member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| MLC1modulator of VRAC current 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Noen ganger (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Noen ganger (5–29 %) | I 2 tilstander |
| PET100PET100 cytochrome c oxidase chaperone | Noen ganger (5–29 %) | I 1 tilstand |
| PGM2L1phosphoglucomutase 2 like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Noen ganger (5–29 %) | I 2 tilstander |
| QARS1glutaminyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Noen ganger (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC19A3solute carrier family 19 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Noen ganger (5–29 %) | I 1 tilstand |
| SVBPsmall vasohibin binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Noen ganger (5–29 %) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TICAM1TIR domain containing adaptor molecule 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TLR3toll like receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF3TNF receptor associated factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| UCP2uncoupling protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UNC93B1unc-93B1 regulator of TLR signaling | Noen ganger (5–29 %) | I 1 tilstand |
| UPB1beta-ureidopropionase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Noen ganger (5–29 %) | I 2 tilstander |
| AARS1alanyl-tRNA synthetase 1 | Sjelden (1–4%) | I 1 tilstand |
| ACTL6Bactin like 6B | Sjelden (1–4%) | I 1 tilstand |
| ADGRV1adhesion G protein-coupled receptor V1 | Sjelden (1–4%) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Sjelden (1–4%) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Sjelden (1–4%) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Sjelden (1–4%) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Sjelden (1–4%) | I 1 tilstand |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Sjelden (1–4%) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Sjelden (1–4%) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Sjelden (1–4%) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Sjelden (1–4%) | I 1 tilstand |
| CLCN2chloride voltage-gated channel 2 | Sjelden (1–4%) | I 1 tilstand |
| CLTCclathrin heavy chain | Sjelden (1–4%) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Sjelden (1–4%) | I 1 tilstand |
| CPA6carboxypeptidase A6 | Sjelden (1–4%) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Sjelden (1–4%) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Sjelden (1–4%) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sjelden (1–4%) | I 1 tilstand |
| DNM1dynamin 1 | Sjelden (1–4%) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Sjelden (1–4%) | I 1 tilstand |
| FBXO28F-box protein 28 | Sjelden (1–4%) | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Sjelden (1–4%) | I 1 tilstand |
| FOXG1forkhead box G1 | Sjelden (1–4%) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Sjelden (1–4%) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Sjelden (1–4%) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sjelden (1–4%) | I 2 tilstander |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sjelden (1–4%) | I 2 tilstander |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Sjelden (1–4%) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Sjelden (1–4%) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sjelden (1–4%) | I 1 tilstand |
| JRKJrk helix-turn-helix protein | Sjelden (1–4%) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Sjelden (1–4%) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Sjelden (1–4%) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Sjelden (1–4%) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Sjelden (1–4%) | I 2 tilstander |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Sjelden (1–4%) | I 3 tilstander |
| NECAP1NECAP endocytosis associated 1 | Sjelden (1–4%) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Sjelden (1–4%) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Sjelden (1–4%) | I 3 tilstander |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjelden (1–4%) | I 4 tilstander |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Sjelden (1–4%) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sjelden (1–4%) | I 2 tilstander |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Sjelden (1–4%) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Sjelden (1–4%) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Sjelden (1–4%) | I 1 tilstand |
| STX1Bsyntaxin 1B | Sjelden (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjelden (1–4%) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Sjelden (1–4%) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Sjelden (1–4%) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Sjelden (1–4%) | I 2 tilstander |
| UBA5ubiquitin like modifier activating enzyme 5 | Sjelden (1–4%) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Sjelden (1–4%) | I 1 tilstand |
| AMACRalpha-methylacyl-CoA racemase | Ikke registrert | I 1 tilstand |
| CTSDcathepsin D | Ikke registrert | I 1 tilstand |
| FHfumarate hydratase | Ikke registrert | I 1 tilstand |
| ITPAinosine triphosphatase | Ikke registrert | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Ikke registrert | I 1 tilstand |
| PRODHproline dehydrogenase 1 | Ikke registrert | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Ikke registrert | I 1 tilstand |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Ikke registrert | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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