Požymis

Repeated seizures without recovery between them

Klinikinis pavadinimas: 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.

HPO HP:0002133

Taip pat vadinama: Prolonged seizure, Repeated seizure without recovery
Kūno sistema: Abnormality of the nervous system

Ši puslapis kaip duomenys

Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.

library(jsonlite)

url <- "https://dantelabs.com/traits/status-epilepticus.json"
page <- fromJSON(url)
page$trait$name

Atidaryti JSON

Vienu tyrimu sužinokite genus, susijusius su Repeated seizures without recovery between them, ir kitą jūsų genomo dalį.

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Įsigyti savo Genome Test

207 genų susiję su Repeated seizures without recovery between them

Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Repeated seizures without recovery between them. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.

Genas	Kaip dažnai pasireiškia	Ligos
AGO1argonaute RISC component 1	Visada	1 ligoje
APTXaprataxin	Visada	1 ligoje
ARV1ARV1 fatty acid homeostasis modulator	Visada	1 ligoje
BCL10BCL10 immune signaling adaptor	Visada	1 ligoje
CARS2cysteinyl-tRNA synthetase 2, mitochondrial	Visada	2 ligose
CCDC88Acoiled-coil and HOOK domain protein 88A	Visada	1 ligoje
COG8component of oligomeric golgi complex 8	Visada	1 ligoje
COQ2coenzyme Q2, polyprenyltransferase	Visada	1 ligoje
COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10	Visada	1 ligoje
DHDDSdehydrodolichyl diphosphate synthase subunit	Visada	2 ligose
DNM1Ldynamin 1L	Visada	2 ligose
ECE1endothelin converting enzyme 1	Visada	1 ligoje
FDXRferredoxin reductase	Visada	1 ligoje
GET4guided entry of tail-anchored proteins factor 4	Visada	1 ligoje
GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B	Visada	1 ligoje
JKAMPJNK1/MAPK8 associated membrane protein	Visada	1 ligoje
KLHL20kelch like family member 20	Visada	1 ligoje
MECP2methyl-CpG binding protein 2	Visada	1 ligoje
MICU1mitochondrial calcium uptake 1	Visada	1 ligoje
MRM2mitochondrial rRNA methyltransferase 2	Visada	1 ligoje
NFU1NFU1 iron-sulfur cluster scaffold	Visada	1 ligoje
NOTCH3notch receptor 3	Visada	1 ligoje
NUS1NUS1 dehydrodolichyl diphosphate synthase subunit	Visada	2 ligose
PIGAphosphatidylinositol glycan anchor biosynthesis class A	Visada	2 ligose
PSAPprosaposin	Visada	1 ligoje
RFC4replication factor C subunit 4	Visada	1 ligoje
SCN2Asodium voltage-gated channel alpha subunit 2	Visada	5 ligose
TANGO2transport and golgi organization 2 homolog	Visada	1 ligoje
TMEM63Btransmembrane protein 63B	Visada	1 ligoje
TRAPPC2Ltrafficking protein particle complex subunit 2L	Visada	1 ligoje
TWNKtwinkle mtDNA helicase	Visada	1 ligoje
UGGT1UDP-glucose glycoprotein glucosyltransferase 1	Visada	1 ligoje
UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2	Visada	1 ligoje
VPS51VPS51 subunit of GARP complex	Visada	1 ligoje
WWOXWW domain containing oxidoreductase	Visada	1 ligoje
ARXaristaless related homeobox	Labai dažnai (80–99%)	1 ligoje
GABRA1gamma-aminobutyric acid type A receptor subunit alpha1	Labai dažnai (80–99%)	2 ligose
LGI1leucine rich glioma inactivated 1	Labai dažnai (80–99%)	1 ligoje
PIGSphosphatidylinositol glycan anchor biosynthesis class S	Labai dažnai (80–99%)	1 ligoje
PNPOpyridoxamine 5'-phosphate oxidase	Labai dažnai (80–99%)	1 ligoje

Rodyti dar 167 genų

Genas	Kaip dažnai pasireiškia	Ligos
RNU4ATACRNA, U4atac small nuclear	Labai dažnai (80–99%)	2 ligose
SLC13A5solute carrier family 13 member 5	Labai dažnai (80–99%)	2 ligose
SLC2A1solute carrier family 2 member 1	Labai dažnai (80–99%)	2 ligose
TIMM50translocase of inner mitochondrial membrane 50	Labai dažnai (80–99%)	1 ligoje
ALDH5A1aldehyde dehydrogenase 5 family member A1	Dažnai (30–79%)	2 ligose
ALDH7A1aldehyde dehydrogenase 7 family member A1	Dažnai (30–79%)	2 ligose
AP3B2adaptor related protein complex 3 subunit beta 2	Dažnai (30–79%)	2 ligose
AQP4aquaporin 4	Dažnai (30–79%)	2 ligose
ATP1A1ATPase Na+/K+ transporting subunit alpha 1	Dažnai (30–79%)	2 ligose
ATP1A3ATPase Na+/K+ transporting subunit alpha 3	Dažnai (30–79%)	4 ligose
ATP6V0A2ATPase H+ transporting V0 subunit a2	Dažnai (30–79%)	1 ligoje
CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	Dažnai (30–79%)	1 ligoje
CHD2chromodomain helicase DNA binding protein 2	Dažnai (30–79%)	1 ligoje
CNTNAP2contactin associated protein 2	Dažnai (30–79%)	1 ligoje
CRELD1CRELD disulfide isomerase 1	Dažnai (30–79%)	1 ligoje
DEAF1DEAF1 transcription factor	Dažnai (30–79%)	2 ligose
DHCR2424-dehydrocholesterol reductase	Dažnai (30–79%)	1 ligoje
DTYMKdeoxythymidylate kinase	Dažnai (30–79%)	1 ligoje
EHMT1euchromatic histone lysine methyltransferase 1	Dažnai (30–79%)	1 ligoje
EPM2AEPM2A glucan phosphatase, laforin	Dažnai (30–79%)	1 ligoje
FGF12fibroblast growth factor 12	Dažnai (30–79%)	2 ligose
FIG4FIG4 phosphoinositide 5-phosphatase	Dažnai (30–79%)	1 ligoje
GABRA2gamma-aminobutyric acid type A receptor subunit alpha2	Dažnai (30–79%)	2 ligose
GABRA5gamma-aminobutyric acid type A receptor subunit alpha5	Dažnai (30–79%)	2 ligose
GLYCTKglycerate kinase	Dažnai (30–79%)	1 ligoje
GRM7glutamate metabotropic receptor 7	Dažnai (30–79%)	1 ligoje
HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1	Dažnai (30–79%)	3 ligose
IFNGinterferon gamma	Dažnai (30–79%)	1 ligoje
IQSEC1IQ motif and Sec7 domain ArfGEF 1	Dažnai (30–79%)	1 ligoje
LMNB2lamin B2	Dažnai (30–79%)	1 ligoje
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2	Dažnai (30–79%)	2 ligose
NDUFA6NADH:ubiquinone oxidoreductase subunit A6	Dažnai (30–79%)	1 ligoje
NDUFA8NADH:ubiquinone oxidoreductase subunit A8	Dažnai (30–79%)	1 ligoje
NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1	Dažnai (30–79%)	1 ligoje
NTRK2neurotrophic receptor tyrosine kinase 2	Dažnai (30–79%)	2 ligose
PCDH19protocadherin 19	Dažnai (30–79%)	2 ligose
PLPBPpyridoxal phosphate binding protein	Dažnai (30–79%)	1 ligoje
POLGDNA polymerase gamma, catalytic subunit	Dažnai (30–79%)	1 ligoje
PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma	Dažnai (30–79%)	1 ligoje
PUM1pumilio RNA binding family member 1	Dažnai (30–79%)	1 ligoje
RHOBTB2Rho related BTB domain containing 2	Dažnai (30–79%)	2 ligose
RNU2-2RNA, U2 small nuclear 2	Dažnai (30–79%)	1 ligoje
SLC25A12solute carrier family 25 member 12	Dažnai (30–79%)	1 ligoje
SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	Dažnai (30–79%)	1 ligoje
TBC1D24TBC1 domain family member 24	Dažnai (30–79%)	2 ligose
TSC1TSC complex subunit 1	Dažnai (30–79%)	1 ligoje
TSC2TSC complex subunit 2	Dažnai (30–79%)	1 ligoje
UNC13Aunc-13 homolog A	Dažnai (30–79%)	1 ligoje
VARS1valyl-tRNA synthetase 1	Dažnai (30–79%)	1 ligoje
WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	Dažnai (30–79%)	1 ligoje
ABCC8ATP binding cassette subfamily C member 8	Kartais (5–29%)	1 ligoje
AKT3AKT serine/threonine kinase 3	Kartais (5–29%)	1 ligoje
ALDH4A1aldehyde dehydrogenase 4 family member A1	Kartais (5–29%)	1 ligoje
ATP1A2ATPase Na+/K+ transporting subunit alpha 2	Kartais (5–29%)	3 ligose
ATXN10ataxin 10	Kartais (5–29%)	1 ligoje
CACNA1Acalcium voltage-gated channel subunit alpha1 A	Kartais (5–29%)	3 ligose
CACNA1Ecalcium voltage-gated channel subunit alpha1 E	Kartais (5–29%)	1 ligoje
CARS1cysteinyl-tRNA synthetase 1	Kartais (5–29%)	1 ligoje
COX7Bcytochrome c oxidase subunit 7B	Kartais (5–29%)	1 ligoje
DIS3L2DIS3 like 3'-5' exoribonuclease 2	Kartais (5–29%)	1 ligoje
EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific	Kartais (5–29%)	1 ligoje
EFHC1EF-hand domain containing 1	Kartais (5–29%)	3 ligose
ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1	Kartais (5–29%)	1 ligoje
GNB1G protein subunit beta 1	Kartais (5–29%)	1 ligoje
GPRC5BG protein-coupled receptor class C group 5 member B	Kartais (5–29%)	1 ligoje
GRIA3glutamate ionotropic receptor AMPA type subunit 3	Kartais (5–29%)	1 ligoje
GRIA4glutamate ionotropic receptor AMPA type subunit 4	Kartais (5–29%)	1 ligoje
GRIN1glutamate ionotropic receptor NMDA type subunit 1	Kartais (5–29%)	1 ligoje
HCCSholocytochrome c synthase	Kartais (5–29%)	1 ligoje
HEPACAMhepatic and glial cell adhesion molecule	Kartais (5–29%)	1 ligoje
KCNH5potassium voltage-gated channel subfamily H member 5	Kartais (5–29%)	2 ligose
KCNJ11potassium inwardly rectifying channel subfamily J member 11	Kartais (5–29%)	1 ligoje
KCNMA1potassium calcium-activated channel subfamily M alpha 1	Kartais (5–29%)	1 ligoje
KCNT1potassium sodium-activated channel subfamily T member 1	Kartais (5–29%)	2 ligose
KIF11kinesin family member 11	Kartais (5–29%)	1 ligoje
MLC1modulator of VRAC current 1	Kartais (5–29%)	1 ligoje
MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2	Kartais (5–29%)	1 ligoje
MTORmechanistic target of rapamycin kinase	Kartais (5–29%)	1 ligoje
NDUFB11NADH:ubiquinone oxidoreductase subunit B11	Kartais (5–29%)	1 ligoje
PACS2phosphofurin acidic cluster sorting protein 2	Kartais (5–29%)	2 ligose
PET100PET100 cytochrome c oxidase chaperone	Kartais (5–29%)	1 ligoje
PGM2L1phosphoglucomutase 2 like 1	Kartais (5–29%)	1 ligoje
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Kartais (5–29%)	1 ligoje
PPP3CAprotein phosphatase 3 catalytic subunit alpha	Kartais (5–29%)	2 ligose
QARS1glutaminyl-tRNA synthetase 1	Kartais (5–29%)	1 ligoje
RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B	Kartais (5–29%)	1 ligoje
SATB1SATB homeobox 1	Kartais (5–29%)	1 ligoje
SLC19A3solute carrier family 19 member 3	Kartais (5–29%)	1 ligoje
SLC1A3solute carrier family 1 member 3	Kartais (5–29%)	1 ligoje
SLC32A1solute carrier family 32 member 1	Kartais (5–29%)	2 ligose
SMARCAL1SNF2 related chromatin remodeling annealing helicase 1	Kartais (5–29%)	1 ligoje
SONSON DNA and RNA binding protein	Kartais (5–29%)	1 ligoje
STRADASTE20 related adaptor alpha	Kartais (5–29%)	1 ligoje
SVBPsmall vasohibin binding protein	Kartais (5–29%)	1 ligoje
TBC1D20TBC1 domain family member 20	Kartais (5–29%)	1 ligoje
TBK1TANK binding kinase 1	Kartais (5–29%)	2 ligose
TICAM1TIR domain containing adaptor molecule 1	Kartais (5–29%)	1 ligoje
TLR3toll like receptor 3	Kartais (5–29%)	1 ligoje
TRAF3TNF receptor associated factor 3	Kartais (5–29%)	1 ligoje
UCP2uncoupling protein 2	Kartais (5–29%)	1 ligoje
UNC93B1unc-93B1 regulator of TLR signaling	Kartais (5–29%)	1 ligoje
UPB1beta-ureidopropionase 1	Kartais (5–29%)	1 ligoje
YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma	Kartais (5–29%)	2 ligose
AARS1alanyl-tRNA synthetase 1	Retai (1–4 %)	1 ligoje
ACTL6Bactin like 6B	Retai (1–4 %)	1 ligoje
ADGRV1adhesion G protein-coupled receptor V1	Retai (1–4 %)	1 ligoje
ATP6V1AATPase H+ transporting V1 subunit A	Retai (1–4 %)	1 ligoje
BSCL2BSCL2 lipid droplet biogenesis associated, seipin	Retai (1–4 %)	1 ligoje
CACNA1Bcalcium voltage-gated channel subunit alpha1 B	Retai (1–4 %)	1 ligoje
CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1	Retai (1–4 %)	1 ligoje
CACNB4calcium voltage-gated channel auxiliary subunit beta 4	Retai (1–4 %)	1 ligoje
CDK19cyclin dependent kinase 19	Retai (1–4 %)	1 ligoje
CELF2CUGBP Elav-like family member 2	Retai (1–4 %)	1 ligoje
CILK1ciliogenesis associated kinase 1	Retai (1–4 %)	1 ligoje
CLCN2chloride voltage-gated channel 2	Retai (1–4 %)	1 ligoje
CLTCclathrin heavy chain	Retai (1–4 %)	1 ligoje
CNKSR2connector enhancer of kinase suppressor of Ras 2	Retai (1–4 %)	1 ligoje
CPA6carboxypeptidase A6	Retai (1–4 %)	1 ligoje
CYFIP2cytoplasmic FMR1 interacting protein 2	Retai (1–4 %)	1 ligoje
DALRD3DALR anticodon binding domain containing 3	Retai (1–4 %)	1 ligoje
DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit	Retai (1–4 %)	1 ligoje
DNM1dynamin 1	Retai (1–4 %)	1 ligoje
EEF1A2eukaryotic translation elongation factor 1 alpha 2	Retai (1–4 %)	1 ligoje
FBXO28F-box protein 28	Retai (1–4 %)	1 ligoje
FGF13fibroblast growth factor 13	Retai (1–4 %)	1 ligoje
FOXG1forkhead box G1	Retai (1–4 %)	1 ligoje
FZR1fizzy and cell division cycle 20 related 1	Retai (1–4 %)	1 ligoje
GABBR2gamma-aminobutyric acid type B receptor subunit 2	Retai (1–4 %)	1 ligoje
GABRB2gamma-aminobutyric acid type A receptor subunit beta2	Retai (1–4 %)	1 ligoje
GABRDgamma-aminobutyric acid type A receptor subunit delta	Retai (1–4 %)	2 ligose
GABRG2gamma-aminobutyric acid type A receptor subunit gamma2	Retai (1–4 %)	2 ligose
GPAA1glycosylphosphatidylinositol anchor attachment 1	Retai (1–4 %)	1 ligoje
GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D	Retai (1–4 %)	1 ligoje
IARS2isoleucyl-tRNA synthetase 2, mitochondrial	Retai (1–4 %)	1 ligoje
JRKJrk helix-turn-helix protein	Retai (1–4 %)	1 ligoje
KCNA2potassium voltage-gated channel subfamily A member 2	Retai (1–4 %)	1 ligoje
KCNB1potassium voltage-gated channel subfamily B member 1	Retai (1–4 %)	1 ligoje
KCNC2potassium voltage-gated channel subfamily C member 2	Retai (1–4 %)	1 ligoje
KCNQ2potassium voltage-gated channel subfamily Q member 2	Retai (1–4 %)	2 ligose
KCNQ3potassium voltage-gated channel subfamily Q member 3	Retai (1–4 %)	3 ligose
NECAP1NECAP endocytosis associated 1	Retai (1–4 %)	1 ligoje
PARS2prolyl-tRNA synthetase 2, mitochondrial	Retai (1–4 %)	1 ligoje
PRRT2proline rich transmembrane protein 2	Retai (1–4 %)	3 ligose
SCN1Asodium voltage-gated channel alpha subunit 1	Retai (1–4 %)	4 ligose
SCN1Bsodium voltage-gated channel beta subunit 1	Retai (1–4 %)	1 ligoje
SCN3Asodium voltage-gated channel alpha subunit 3	Retai (1–4 %)	1 ligoje
SCN8Asodium voltage-gated channel alpha subunit 8	Retai (1–4 %)	2 ligose
SCN9Asodium voltage-gated channel alpha subunit 9	Retai (1–4 %)	1 ligoje
SLC1A2solute carrier family 1 member 2	Retai (1–4 %)	1 ligoje
SLC38A3solute carrier family 38 member 3	Retai (1–4 %)	1 ligoje
STX1Bsyntaxin 1B	Retai (1–4 %)	1 ligoje
SYNGAP1synaptic Ras GTPase activating protein 1	Retai (1–4 %)	1 ligoje
SYNJ1synaptojanin 1	Retai (1–4 %)	1 ligoje
SZT2SZT2 subunit of KICSTOR complex	Retai (1–4 %)	1 ligoje
TRAK1trafficking kinesin protein 1	Retai (1–4 %)	2 ligose
UBA5ubiquitin like modifier activating enzyme 5	Retai (1–4 %)	1 ligoje
UFSP2UFM1 specific peptidase 2	Retai (1–4 %)	1 ligoje
AMACRalpha-methylacyl-CoA racemase	Neužfiksuota	1 ligoje
CTSDcathepsin D	Neužfiksuota	1 ligoje
FHfumarate hydratase	Neužfiksuota	1 ligoje
ITPAinosine triphosphatase	Neužfiksuota	1 ligoje
NARS2asparaginyl-tRNA synthetase 2, mitochondrial	Neužfiksuota	1 ligoje
NEXMIFneurite extension and migration factor	Neužfiksuota	1 ligoje
PRODHproline dehydrogenase 1	Neužfiksuota	1 ligoje
SLC12A5solute carrier family 12 member 5	Neužfiksuota	1 ligoje
ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5	Neužfiksuota	1 ligoje
STXBP1syntaxin binding protein 1	Neužfiksuota	1 ligoje

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Siauresni požymiai

Platesni požymiai

Epilepsy

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Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
Duomenų leidimas 2026.10.17-8666dff2.

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