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Požymis
Epileptic encephalopathy
A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.
Santrauka
- Taip pat vadinama
- Convulsive encephalopathy
- Kūno sistema
- Abnormality of the nervous system
Epileptic encephalopathyHP:0200134
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Read the genes linked to Epileptic encephalopathy, and the rest of your genome, with one test.
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Įsigyti savo Genome Test134 genų susiję su Epileptic encephalopathy
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Epileptic encephalopathy. 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 |
|---|---|---|
| ABAT4-aminobutyrate aminotransferase | Visada | 1 ligoje |
| ARHGEF9Cdc42 guanine nucleotide exchange factor 9 | Visada | 2 ligose |
| ARV1ARV1 fatty acid homeostasis modulator | Visada | 1 ligoje |
| ARXaristaless related homeobox | Visada | 2 ligose |
| BOLA3bolA family member 3 | Visada | 2 ligose |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Visada | 1 ligoje |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Visada | 1 ligoje |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Visada | 1 ligoje |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Visada | 2 ligose |
| CHKAcholine kinase alpha | Visada | 1 ligoje |
| CLCN4Cl-/H+ antiporter 4 | Visada | 1 ligoje |
| CPLX1complexin 1 | Visada | 1 ligoje |
| DENND5ADENN domain containing 5A | Visada | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Visada | 1 ligoje |
| DNM1dynamin 1 | Visada | 1 ligoje |
| DOCK7dedicator of cytokinesis 7 | Visada | 1 ligoje |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Visada | 1 ligoje |
| FGF12fibroblast growth factor 12 | Visada | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Visada | 1 ligoje |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Visada | 1 ligoje |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Visada | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Visada | 1 ligoje |
| GLSglutaminase | Visada | 1 ligoje |
| GLULglutamate-ammonia ligase | Visada | 1 ligoje |
| GNAO1G protein subunit alpha o1 | Visada | 3 ligose |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Visada | 3 ligose |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Visada | 1 ligoje |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Visada | 1 ligoje |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Visada | 1 ligoje |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Visada | 2 ligose |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Visada | 1 ligoje |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Visada | 1 ligoje |
| MAST3microtubule associated serine/threonine kinase 3 | Visada | 1 ligoje |
| MSL2MSL complex subunit 2 | Visada | 1 ligoje |
| NAPBNSF attachment protein beta | Visada | 1 ligoje |
| NECAP1NECAP endocytosis associated 1 | Visada | 1 ligoje |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | Visada | 1 ligoje |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| PLCB1phospholipase C beta 1 | Visada | 1 ligoje |
Rodyti dar 94 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| POLR1ARNA polymerase I subunit A | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Visada | 2 ligose |
| SLC13A5solute carrier family 13 member 5 | Visada | 1 ligoje |
| SLC1A2solute carrier family 1 member 2 | Visada | 1 ligoje |
| SLC25A22solute carrier family 25 member 22 | Visada | 2 ligose |
| SLC35A2solute carrier family 35 member A2 | Visada | 1 ligoje |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Visada | 1 ligoje |
| SYNJ1synaptojanin 1 | Visada | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Visada | 2 ligose |
| TRIT1tRNA isopentenyltransferase 1 | Visada | 1 ligoje |
| UBA5ubiquitin like modifier activating enzyme 5 | Visada | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Visada | 1 ligoje |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Labai dažnai (80–99%) | 2 ligose |
| CASKcalcium/calmodulin dependent serine protein kinase | Labai dažnai (80–99%) | 2 ligose |
| CDKL5cyclin dependent kinase like 5 | Labai dažnai (80–99%) | 2 ligose |
| DMXL2Dmx like 2 | Labai dažnai (80–99%) | 1 ligoje |
| GRM7glutamate metabotropic receptor 7 | Labai dažnai (80–99%) | 1 ligoje |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Labai dažnai (80–99%) | 1 ligoje |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Labai dažnai (80–99%) | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Labai dažnai (80–99%) | 1 ligoje |
| NEUROD2neuronal differentiation 2 | Labai dažnai (80–99%) | 2 ligose |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Labai dažnai (80–99%) | 2 ligose |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Labai dažnai (80–99%) | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Labai dažnai (80–99%) | 1 ligoje |
| PNPOpyridoxamine 5'-phosphate oxidase | Labai dažnai (80–99%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| SIK1salt inducible kinase 1 | Labai dažnai (80–99%) | 2 ligose |
| SLC32A1solute carrier family 32 member 1 | Labai dažnai (80–99%) | 1 ligoje |
| TRIM8tripartite motif containing 8 | Labai dažnai (80–99%) | 1 ligoje |
| UGDHUDP-glucose 6-dehydrogenase | Labai dažnai (80–99%) | 1 ligoje |
| AFF3ALF transcription elongation factor 3 | Dažnai (30–79%) | 1 ligoje |
| ATP6V1AATPase H+ transporting V1 subunit A | Dažnai (30–79%) | 1 ligoje |
| CELF2CUGBP Elav-like family member 2 | Dažnai (30–79%) | 1 ligoje |
| COQ4coenzyme Q4 | Dažnai (30–79%) | 1 ligoje |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Dažnai (30–79%) | 1 ligoje |
| FCSKfucose kinase | Dažnai (30–79%) | 1 ligoje |
| NRXN1neurexin 1 | Dažnai (30–79%) | 1 ligoje |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Dažnai (30–79%) | 1 ligoje |
| PMPCBpeptidase, mitochondrial processing subunit beta | Dažnai (30–79%) | 1 ligoje |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| RNF13ring finger protein 13 | Dažnai (30–79%) | 2 ligose |
| SLC25A12solute carrier family 25 member 12 | Dažnai (30–79%) | 1 ligoje |
| SLC38A3solute carrier family 38 member 3 | Dažnai (30–79%) | 1 ligoje |
| ZNF668zinc finger protein 668 | Dažnai (30–79%) | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| CRLS1cardiolipin synthase 1 | Kartais (5–29%) | 1 ligoje |
| DCXdoublecortin | Kartais (5–29%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Kartais (5–29%) | 1 ligoje |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Kartais (5–29%) | 1 ligoje |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Kartais (5–29%) | 1 ligoje |
| MEF2Cmyocyte enhancer factor 2C | Kartais (5–29%) | 1 ligoje |
| SLC9A6solute carrier family 9 member A6 | Kartais (5–29%) | 1 ligoje |
| STAG1STAG1 cohesin complex component | Kartais (5–29%) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Kartais (5–29%) | 2 ligose |
| TRA2Btransformer 2 beta homolog | Kartais (5–29%) | 1 ligoje |
| UNC13Aunc-13 homolog A | Kartais (5–29%) | 1 ligoje |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Retai (1–4 %) | 1 ligoje |
| CHD2chromodomain helicase DNA binding protein 2 | Retai (1–4 %) | 2 ligose |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Retai (1–4 %) | 1 ligoje |
| KMT2Elysine methyltransferase 2E (inactive) | Retai (1–4 %) | 1 ligoje |
| NEXMIFneurite extension and migration factor | Retai (1–4 %) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Retai (1–4 %) | 2 ligose |
| SLC2A1solute carrier family 2 member 1 | Retai (1–4 %) | 1 ligoje |
| SLC6A1solute carrier family 6 member 1 | Retai (1–4 %) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Retai (1–4 %) | 2 ligose |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Retai (1–4 %) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| ADAM22ADAM metallopeptidase domain 22 | Neužfiksuota | 1 ligoje |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Neužfiksuota | 1 ligoje |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Neužfiksuota | 1 ligoje |
| CUX2cut like homeobox 2 | Neužfiksuota | 1 ligoje |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Neužfiksuota | 1 ligoje |
| FRRS1Lferric chelate reductase 1 like | Neužfiksuota | 1 ligoje |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Neužfiksuota | 1 ligoje |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Neužfiksuota | 1 ligoje |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Neužfiksuota | 1 ligoje |
| GUF1GTP binding elongation factor GUF1 | Neužfiksuota | 1 ligoje |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Neužfiksuota | 1 ligoje |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Neužfiksuota | 1 ligoje |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Neužfiksuota | 1 ligoje |
| MDH1malate dehydrogenase 1 | Neužfiksuota | 1 ligoje |
| MDH2malate dehydrogenase 2 | Neužfiksuota | 1 ligoje |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Neužfiksuota | 1 ligoje |
| PACS2phosphofurin acidic cluster sorting protein 2 | Neužfiksuota | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| PHACTR1phosphatase and actin regulator 1 | Neužfiksuota | 1 ligoje |
| ROGDIrogdi atypical leucine zipper | Neužfiksuota | 1 ligoje |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Neužfiksuota | 1 ligoje |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Neužfiksuota | 1 ligoje |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Neužfiksuota | 1 ligoje |
| SZT2SZT2 subunit of KICSTOR complex | Neužfiksuota | 1 ligoje |
| TWNKtwinkle mtDNA helicase | 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.
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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 2026.10.16-c6eea6bf.
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