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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.
Kokkuvõte
- Teised nimetused
- Convulsive encephalopathy
- Kehasüsteem
- 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.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test134 geeni on seotud tunnusega Epileptic encephalopathy
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Epileptic encephalopathy. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ABAT4-aminobutyrate aminotransferase | Alati | Esineb 1 haiguses |
| ARHGEF9Cdc42 guanine nucleotide exchange factor 9 | Alati | Esineb 2 haiguses |
| ARV1ARV1 fatty acid homeostasis modulator | Alati | Esineb 1 haiguses |
| ARXaristaless related homeobox | Alati | Esineb 2 haiguses |
| BOLA3bolA family member 3 | Alati | Esineb 2 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Alati | Esineb 1 haiguses |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Alati | Esineb 1 haiguses |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Alati | Esineb 1 haiguses |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 2 haiguses |
| CHKAcholine kinase alpha | Alati | Esineb 1 haiguses |
| CLCN4Cl-/H+ antiporter 4 | Alati | Esineb 1 haiguses |
| CPLX1complexin 1 | Alati | Esineb 1 haiguses |
| DENND5ADENN domain containing 5A | Alati | Esineb 1 haiguses |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Alati | Esineb 1 haiguses |
| DNM1dynamin 1 | Alati | Esineb 1 haiguses |
| DOCK7dedicator of cytokinesis 7 | Alati | Esineb 1 haiguses |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Alati | Esineb 1 haiguses |
| FGF12fibroblast growth factor 12 | Alati | Esineb 1 haiguses |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Alati | Esineb 1 haiguses |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Alati | Esineb 1 haiguses |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Alati | Esineb 1 haiguses |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Alati | Esineb 1 haiguses |
| GLSglutaminase | Alati | Esineb 1 haiguses |
| GLULglutamate-ammonia ligase | Alati | Esineb 1 haiguses |
| GNAO1G protein subunit alpha o1 | Alati | Esineb 3 haiguses |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alati | Esineb 3 haiguses |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Alati | Esineb 1 haiguses |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Alati | Esineb 1 haiguses |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Alati | Esineb 1 haiguses |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Alati | Esineb 2 haiguses |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Alati | Esineb 1 haiguses |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Alati | Esineb 1 haiguses |
| MAST3microtubule associated serine/threonine kinase 3 | Alati | Esineb 1 haiguses |
| MSL2MSL complex subunit 2 | Alati | Esineb 1 haiguses |
| NAPBNSF attachment protein beta | Alati | Esineb 1 haiguses |
| NECAP1NECAP endocytosis associated 1 | Alati | Esineb 1 haiguses |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | Alati | Esineb 1 haiguses |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 1 haiguses |
| PLCB1phospholipase C beta 1 | Alati | Esineb 1 haiguses |
Näita veel 94 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| POLR1ARNA polymerase I subunit A | Alati | Esineb 1 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Alati | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Alati | Esineb 2 haiguses |
| SLC13A5solute carrier family 13 member 5 | Alati | Esineb 1 haiguses |
| SLC1A2solute carrier family 1 member 2 | Alati | Esineb 1 haiguses |
| SLC25A22solute carrier family 25 member 22 | Alati | Esineb 2 haiguses |
| SLC35A2solute carrier family 35 member A2 | Alati | Esineb 1 haiguses |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Alati | Esineb 1 haiguses |
| SYNJ1synaptojanin 1 | Alati | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Alati | Esineb 2 haiguses |
| TRIT1tRNA isopentenyltransferase 1 | Alati | Esineb 1 haiguses |
| UBA5ubiquitin like modifier activating enzyme 5 | Alati | Esineb 1 haiguses |
| WWOXWW domain containing oxidoreductase | Alati | Esineb 1 haiguses |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Väga sageli (80–99%) | Esineb 2 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| CDKL5cyclin dependent kinase like 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| DMXL2Dmx like 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GRM7glutamate metabotropic receptor 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LGI1leucine rich glioma inactivated 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NEUROD2neuronal differentiation 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Väga sageli (80–99%) | Esineb 2 haiguses |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Väga sageli (80–99%) | Esineb 1 haiguses |
| PNKPpolynucleotide kinase 3'-phosphatase | Väga sageli (80–99%) | Esineb 1 haiguses |
| PNPOpyridoxamine 5'-phosphate oxidase | Väga sageli (80–99%) | Esineb 1 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SIK1salt inducible kinase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC32A1solute carrier family 32 member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRIM8tripartite motif containing 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| UGDHUDP-glucose 6-dehydrogenase | Väga sageli (80–99%) | Esineb 1 haiguses |
| AFF3ALF transcription elongation factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| CELF2CUGBP Elav-like family member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| COQ4coenzyme Q4 | Sageli (30–79%) | Esineb 1 haiguses |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Sageli (30–79%) | Esineb 1 haiguses |
| FCSKfucose kinase | Sageli (30–79%) | Esineb 1 haiguses |
| NRXN1neurexin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PMPCBpeptidase, mitochondrial processing subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| RNF13ring finger protein 13 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC25A12solute carrier family 25 member 12 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC38A3solute carrier family 38 member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF668zinc finger protein 668 | Sageli (30–79%) | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRLS1cardiolipin synthase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DCXdoublecortin | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEF2Cmyocyte enhancer factor 2C | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC9A6solute carrier family 9 member A6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STAG1STAG1 cohesin complex component | Mõnikord (5–29%) | Esineb 1 haiguses |
| STXBP1syntaxin binding protein 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TRA2Btransformer 2 beta homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Harva (1–4%) | Esineb 1 haiguses |
| CHD2chromodomain helicase DNA binding protein 2 | Harva (1–4%) | Esineb 2 haiguses |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Harva (1–4%) | Esineb 1 haiguses |
| KMT2Elysine methyltransferase 2E (inactive) | Harva (1–4%) | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Harva (1–4%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Harva (1–4%) | Esineb 2 haiguses |
| SLC2A1solute carrier family 2 member 1 | Harva (1–4%) | Esineb 1 haiguses |
| SLC6A1solute carrier family 6 member 1 | Harva (1–4%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Harva (1–4%) | Esineb 2 haiguses |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Harva (1–4%) | Esineb 1 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Pole registreeritud | Esineb 1 haiguses |
| ADAM22ADAM metallopeptidase domain 22 | Pole registreeritud | Esineb 1 haiguses |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Pole registreeritud | Esineb 1 haiguses |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Pole registreeritud | Esineb 1 haiguses |
| CUX2cut like homeobox 2 | Pole registreeritud | Esineb 1 haiguses |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Pole registreeritud | Esineb 1 haiguses |
| FRRS1Lferric chelate reductase 1 like | Pole registreeritud | Esineb 1 haiguses |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Pole registreeritud | Esineb 1 haiguses |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Pole registreeritud | Esineb 1 haiguses |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Pole registreeritud | Esineb 1 haiguses |
| GUF1GTP binding elongation factor GUF1 | Pole registreeritud | Esineb 1 haiguses |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Pole registreeritud | Esineb 1 haiguses |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Pole registreeritud | Esineb 1 haiguses |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Pole registreeritud | Esineb 1 haiguses |
| MDH1malate dehydrogenase 1 | Pole registreeritud | Esineb 1 haiguses |
| MDH2malate dehydrogenase 2 | Pole registreeritud | Esineb 1 haiguses |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Pole registreeritud | Esineb 1 haiguses |
| PACS2phosphofurin acidic cluster sorting protein 2 | Pole registreeritud | Esineb 1 haiguses |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| PHACTR1phosphatase and actin regulator 1 | Pole registreeritud | Esineb 1 haiguses |
| ROGDIrogdi atypical leucine zipper | Pole registreeritud | Esineb 1 haiguses |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Pole registreeritud | Esineb 1 haiguses |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Pole registreeritud | Esineb 1 haiguses |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Pole registreeritud | Esineb 1 haiguses |
| SZT2SZT2 subunit of KICSTOR complex | Pole registreeritud | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
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Logi sisseKüsiAlustaalates 449 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast