Cecha
Repeated seizures without recovery between them
Nazwa kliniczna: 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.
Podsumowanie
- Znana także jako
- Prolonged seizure, Repeated seizure without recovery
- Układ organizmu
- Abnormality of the nervous system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Repeated seizures without recovery between them, and the rest of your genome, with one test.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test207 genów powiązanych z Repeated seizures without recovery between them
Zmiany w tych genach powodują rzadkie choroby, w których występuje Repeated seizures without recovery between them. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| AGO1argonaute RISC component 1 | Zawsze | W 1 chorobie |
| APTXaprataxin | Zawsze | W 1 chorobie |
| ARV1ARV1 fatty acid homeostasis modulator | Zawsze | W 1 chorobie |
| BCL10BCL10 immune signaling adaptor | Zawsze | W 1 chorobie |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Zawsze | W 2 chorobach |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Zawsze | W 1 chorobie |
| COG8component of oligomeric golgi complex 8 | Zawsze | W 1 chorobie |
| COQ2coenzyme Q2, polyprenyltransferase | Zawsze | W 1 chorobie |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Zawsze | W 1 chorobie |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Zawsze | W 2 chorobach |
| DNM1Ldynamin 1L | Zawsze | W 2 chorobach |
| ECE1endothelin converting enzyme 1 | Zawsze | W 1 chorobie |
| FDXRferredoxin reductase | Zawsze | W 1 chorobie |
| GET4guided entry of tail-anchored proteins factor 4 | Zawsze | W 1 chorobie |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Zawsze | W 1 chorobie |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| KLHL20kelch like family member 20 | Zawsze | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Zawsze | W 1 chorobie |
| MICU1mitochondrial calcium uptake 1 | Zawsze | W 1 chorobie |
| MRM2mitochondrial rRNA methyltransferase 2 | Zawsze | W 1 chorobie |
| NFU1NFU1 iron-sulfur cluster scaffold | Zawsze | W 1 chorobie |
| NOTCH3notch receptor 3 | Zawsze | W 1 chorobie |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Zawsze | W 2 chorobach |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Zawsze | W 2 chorobach |
| PSAPprosaposin | Zawsze | W 1 chorobie |
| RFC4replication factor C subunit 4 | Zawsze | W 1 chorobie |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Zawsze | W 5 chorobach |
| TANGO2transport and golgi organization 2 homolog | Zawsze | W 1 chorobie |
| TMEM63Btransmembrane protein 63B | Zawsze | W 1 chorobie |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Zawsze | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Zawsze | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Zawsze | W 1 chorobie |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Zawsze | W 1 chorobie |
| VPS51VPS51 subunit of GARP complex | Zawsze | W 1 chorobie |
| WWOXWW domain containing oxidoreductase | Zawsze | W 1 chorobie |
| ARXaristaless related homeobox | Bardzo często (80–99%) | W 1 chorobie |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Bardzo często (80–99%) | W 2 chorobach |
| LGI1leucine rich glioma inactivated 1 | Bardzo często (80–99%) | W 1 chorobie |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Bardzo często (80–99%) | W 1 chorobie |
| PNPOpyridoxamine 5'-phosphate oxidase | Bardzo często (80–99%) | W 1 chorobie |
Pokaż jeszcze 167 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| RNU4ATACRNA, U4atac small nuclear | Bardzo często (80–99%) | W 2 chorobach |
| SLC13A5solute carrier family 13 member 5 | Bardzo często (80–99%) | W 2 chorobach |
| SLC2A1solute carrier family 2 member 1 | Bardzo często (80–99%) | W 2 chorobach |
| TIMM50translocase of inner mitochondrial membrane 50 | Bardzo często (80–99%) | W 1 chorobie |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Często (30–79%) | W 2 chorobach |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Często (30–79%) | W 2 chorobach |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Często (30–79%) | W 2 chorobach |
| AQP4aquaporin 4 | Często (30–79%) | W 2 chorobach |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Często (30–79%) | W 2 chorobach |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Często (30–79%) | W 4 chorobach |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Często (30–79%) | W 1 chorobie |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Często (30–79%) | W 1 chorobie |
| CHD2chromodomain helicase DNA binding protein 2 | Często (30–79%) | W 1 chorobie |
| CNTNAP2contactin associated protein 2 | Często (30–79%) | W 1 chorobie |
| CRELD1CRELD disulfide isomerase 1 | Często (30–79%) | W 1 chorobie |
| DEAF1DEAF1 transcription factor | Często (30–79%) | W 2 chorobach |
| DHCR2424-dehydrocholesterol reductase | Często (30–79%) | W 1 chorobie |
| DTYMKdeoxythymidylate kinase | Często (30–79%) | W 1 chorobie |
| EHMT1euchromatic histone lysine methyltransferase 1 | Często (30–79%) | W 1 chorobie |
| EPM2AEPM2A glucan phosphatase, laforin | Często (30–79%) | W 1 chorobie |
| FGF12fibroblast growth factor 12 | Często (30–79%) | W 2 chorobach |
| FIG4FIG4 phosphoinositide 5-phosphatase | Często (30–79%) | W 1 chorobie |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Często (30–79%) | W 2 chorobach |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Często (30–79%) | W 2 chorobach |
| GLYCTKglycerate kinase | Często (30–79%) | W 1 chorobie |
| GRM7glutamate metabotropic receptor 7 | Często (30–79%) | W 1 chorobie |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Często (30–79%) | W 3 chorobach |
| IFNGinterferon gamma | Często (30–79%) | W 1 chorobie |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Często (30–79%) | W 1 chorobie |
| LMNB2lamin B2 | Często (30–79%) | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Często (30–79%) | W 2 chorobach |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Często (30–79%) | W 1 chorobie |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Często (30–79%) | W 1 chorobie |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Często (30–79%) | W 1 chorobie |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Często (30–79%) | W 2 chorobach |
| PCDH19protocadherin 19 | Często (30–79%) | W 2 chorobach |
| PLPBPpyridoxal phosphate binding protein | Często (30–79%) | W 1 chorobie |
| POLGDNA polymerase gamma, catalytic subunit | Często (30–79%) | W 1 chorobie |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Często (30–79%) | W 1 chorobie |
| PUM1pumilio RNA binding family member 1 | Często (30–79%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Często (30–79%) | W 2 chorobach |
| RNU2-2RNA, U2 small nuclear 2 | Często (30–79%) | W 1 chorobie |
| SLC25A12solute carrier family 25 member 12 | Często (30–79%) | W 1 chorobie |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Często (30–79%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Często (30–79%) | W 2 chorobach |
| TSC1TSC complex subunit 1 | Często (30–79%) | W 1 chorobie |
| TSC2TSC complex subunit 2 | Często (30–79%) | W 1 chorobie |
| UNC13Aunc-13 homolog A | Często (30–79%) | W 1 chorobie |
| VARS1valyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Często (30–79%) | W 1 chorobie |
| ABCC8ATP binding cassette subfamily C member 8 | Czasami (5–29%) | W 1 chorobie |
| AKT3AKT serine/threonine kinase 3 | Czasami (5–29%) | W 1 chorobie |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Czasami (5–29%) | W 1 chorobie |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Czasami (5–29%) | W 3 chorobach |
| ATXN10ataxin 10 | Czasami (5–29%) | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Czasami (5–29%) | W 3 chorobach |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Czasami (5–29%) | W 1 chorobie |
| CARS1cysteinyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| COX7Bcytochrome c oxidase subunit 7B | Czasami (5–29%) | W 1 chorobie |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Czasami (5–29%) | W 1 chorobie |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Czasami (5–29%) | W 1 chorobie |
| EFHC1EF-hand domain containing 1 | Czasami (5–29%) | W 3 chorobach |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| GNB1G protein subunit beta 1 | Czasami (5–29%) | W 1 chorobie |
| GPRC5BG protein-coupled receptor class C group 5 member B | Czasami (5–29%) | W 1 chorobie |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Czasami (5–29%) | W 1 chorobie |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Czasami (5–29%) | W 1 chorobie |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Czasami (5–29%) | W 1 chorobie |
| HCCSholocytochrome c synthase | Czasami (5–29%) | W 1 chorobie |
| HEPACAMhepatic and glial cell adhesion molecule | Czasami (5–29%) | W 1 chorobie |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Czasami (5–29%) | W 2 chorobach |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Czasami (5–29%) | W 1 chorobie |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Czasami (5–29%) | W 1 chorobie |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Czasami (5–29%) | W 2 chorobach |
| KIF11kinesin family member 11 | Czasami (5–29%) | W 1 chorobie |
| MLC1modulator of VRAC current 1 | Czasami (5–29%) | W 1 chorobie |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Czasami (5–29%) | W 1 chorobie |
| MTORmechanistic target of rapamycin kinase | Czasami (5–29%) | W 1 chorobie |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Czasami (5–29%) | W 1 chorobie |
| PACS2phosphofurin acidic cluster sorting protein 2 | Czasami (5–29%) | W 2 chorobach |
| PET100PET100 cytochrome c oxidase chaperone | Czasami (5–29%) | W 1 chorobie |
| PGM2L1phosphoglucomutase 2 like 1 | Czasami (5–29%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Czasami (5–29%) | W 2 chorobach |
| QARS1glutaminyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Czasami (5–29%) | W 1 chorobie |
| SATB1SATB homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| SLC19A3solute carrier family 19 member 3 | Czasami (5–29%) | W 1 chorobie |
| SLC1A3solute carrier family 1 member 3 | Czasami (5–29%) | W 1 chorobie |
| SLC32A1solute carrier family 32 member 1 | Czasami (5–29%) | W 2 chorobach |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Czasami (5–29%) | W 1 chorobie |
| SONSON DNA and RNA binding protein | Czasami (5–29%) | W 1 chorobie |
| STRADASTE20 related adaptor alpha | Czasami (5–29%) | W 1 chorobie |
| SVBPsmall vasohibin binding protein | Czasami (5–29%) | W 1 chorobie |
| TBC1D20TBC1 domain family member 20 | Czasami (5–29%) | W 1 chorobie |
| TBK1TANK binding kinase 1 | Czasami (5–29%) | W 2 chorobach |
| TICAM1TIR domain containing adaptor molecule 1 | Czasami (5–29%) | W 1 chorobie |
| TLR3toll like receptor 3 | Czasami (5–29%) | W 1 chorobie |
| TRAF3TNF receptor associated factor 3 | Czasami (5–29%) | W 1 chorobie |
| UCP2uncoupling protein 2 | Czasami (5–29%) | W 1 chorobie |
| UNC93B1unc-93B1 regulator of TLR signaling | Czasami (5–29%) | W 1 chorobie |
| UPB1beta-ureidopropionase 1 | Czasami (5–29%) | W 1 chorobie |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Czasami (5–29%) | W 2 chorobach |
| AARS1alanyl-tRNA synthetase 1 | Rzadko (1–4%) | W 1 chorobie |
| ACTL6Bactin like 6B | Rzadko (1–4%) | W 1 chorobie |
| ADGRV1adhesion G protein-coupled receptor V1 | Rzadko (1–4%) | W 1 chorobie |
| ATP6V1AATPase H+ transporting V1 subunit A | Rzadko (1–4%) | W 1 chorobie |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Rzadko (1–4%) | W 1 chorobie |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Rzadko (1–4%) | W 1 chorobie |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Rzadko (1–4%) | W 1 chorobie |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Rzadko (1–4%) | W 1 chorobie |
| CDK19cyclin dependent kinase 19 | Rzadko (1–4%) | W 1 chorobie |
| CELF2CUGBP Elav-like family member 2 | Rzadko (1–4%) | W 1 chorobie |
| CILK1ciliogenesis associated kinase 1 | Rzadko (1–4%) | W 1 chorobie |
| CLCN2chloride voltage-gated channel 2 | Rzadko (1–4%) | W 1 chorobie |
| CLTCclathrin heavy chain | Rzadko (1–4%) | W 1 chorobie |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Rzadko (1–4%) | W 1 chorobie |
| CPA6carboxypeptidase A6 | Rzadko (1–4%) | W 1 chorobie |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Rzadko (1–4%) | W 1 chorobie |
| DALRD3DALR anticodon binding domain containing 3 | Rzadko (1–4%) | W 1 chorobie |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Rzadko (1–4%) | W 1 chorobie |
| DNM1dynamin 1 | Rzadko (1–4%) | W 1 chorobie |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Rzadko (1–4%) | W 1 chorobie |
| FBXO28F-box protein 28 | Rzadko (1–4%) | W 1 chorobie |
| FGF13fibroblast growth factor 13 | Rzadko (1–4%) | W 1 chorobie |
| FOXG1forkhead box G1 | Rzadko (1–4%) | W 1 chorobie |
| FZR1fizzy and cell division cycle 20 related 1 | Rzadko (1–4%) | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Rzadko (1–4%) | W 1 chorobie |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Rzadko (1–4%) | W 1 chorobie |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Rzadko (1–4%) | W 2 chorobach |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Rzadko (1–4%) | W 2 chorobach |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Rzadko (1–4%) | W 1 chorobie |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Rzadko (1–4%) | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Rzadko (1–4%) | W 1 chorobie |
| JRKJrk helix-turn-helix protein | Rzadko (1–4%) | W 1 chorobie |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Rzadko (1–4%) | W 1 chorobie |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Rzadko (1–4%) | W 1 chorobie |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Rzadko (1–4%) | W 1 chorobie |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Rzadko (1–4%) | W 2 chorobach |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Rzadko (1–4%) | W 3 chorobach |
| NECAP1NECAP endocytosis associated 1 | Rzadko (1–4%) | W 1 chorobie |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Rzadko (1–4%) | W 1 chorobie |
| PRRT2proline rich transmembrane protein 2 | Rzadko (1–4%) | W 3 chorobach |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Rzadko (1–4%) | W 4 chorobach |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Rzadko (1–4%) | W 1 chorobie |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Rzadko (1–4%) | W 2 chorobach |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Rzadko (1–4%) | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Rzadko (1–4%) | W 1 chorobie |
| SLC38A3solute carrier family 38 member 3 | Rzadko (1–4%) | W 1 chorobie |
| STX1Bsyntaxin 1B | Rzadko (1–4%) | W 1 chorobie |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Rzadko (1–4%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Rzadko (1–4%) | W 1 chorobie |
| SZT2SZT2 subunit of KICSTOR complex | Rzadko (1–4%) | W 1 chorobie |
| TRAK1trafficking kinesin protein 1 | Rzadko (1–4%) | W 2 chorobach |
| UBA5ubiquitin like modifier activating enzyme 5 | Rzadko (1–4%) | W 1 chorobie |
| UFSP2UFM1 specific peptidase 2 | Rzadko (1–4%) | W 1 chorobie |
| AMACRalpha-methylacyl-CoA racemase | Nie odnotowano | W 1 chorobie |
| CTSDcathepsin D | Nie odnotowano | W 1 chorobie |
| FHfumarate hydratase | Nie odnotowano | W 1 chorobie |
| ITPAinosine triphosphatase | Nie odnotowano | W 1 chorobie |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| NEXMIFneurite extension and migration factor | Nie odnotowano | W 1 chorobie |
| PRODHproline dehydrogenase 1 | Nie odnotowano | W 1 chorobie |
| SLC12A5solute carrier family 12 member 5 | Nie odnotowano | W 1 chorobie |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Nie odnotowano | W 1 chorobie |
| STXBP1syntaxin binding protein 1 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni