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Træk
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.
Resumé
- Også kaldet
- Convulsive encephalopathy
- Kropssystem
- Abnormality of the nervous system
Epileptic encephalopathyHP:0200134
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Bestil min Genome Test134 gener knyttet til Epileptic encephalopathy
Ændringer i disse gener forårsager sjældne tilstande, hvor Epileptic encephalopathy ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABAT4-aminobutyrate aminotransferase | Altid | I 1 tilstand |
| ARHGEF9Cdc42 guanine nucleotide exchange factor 9 | Altid | I 2 tilstande |
| ARV1ARV1 fatty acid homeostasis modulator | Altid | I 1 tilstand |
| ARXaristaless related homeobox | Altid | I 2 tilstande |
| BOLA3bolA family member 3 | Altid | I 2 tilstande |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Altid | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Altid | I 1 tilstand |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Altid | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Altid | I 2 tilstande |
| CHKAcholine kinase alpha | Altid | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Altid | I 1 tilstand |
| CPLX1complexin 1 | Altid | I 1 tilstand |
| DENND5ADENN domain containing 5A | Altid | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Altid | I 1 tilstand |
| DNM1dynamin 1 | Altid | I 1 tilstand |
| DOCK7dedicator of cytokinesis 7 | Altid | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Altid | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Altid | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Altid | I 1 tilstand |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Altid | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Altid | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Altid | I 1 tilstand |
| GLSglutaminase | Altid | I 1 tilstand |
| GLULglutamate-ammonia ligase | Altid | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Altid | I 3 tilstande |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Altid | I 3 tilstande |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Altid | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Altid | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Altid | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Altid | I 2 tilstande |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Altid | I 1 tilstand |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Altid | I 1 tilstand |
| MAST3microtubule associated serine/threonine kinase 3 | Altid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Altid | I 1 tilstand |
| NAPBNSF attachment protein beta | Altid | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Altid | I 1 tilstand |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | Altid | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Altid | I 1 tilstand |
Vis 94 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Altid | I 2 tilstande |
| SLC13A5solute carrier family 13 member 5 | Altid | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Altid | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Altid | I 2 tilstande |
| SLC35A2solute carrier family 35 member A2 | Altid | I 1 tilstand |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Altid | I 1 tilstand |
| SYNJ1synaptojanin 1 | Altid | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Altid | I 2 tilstande |
| TRIT1tRNA isopentenyltransferase 1 | Altid | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Altid | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Altid | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Meget ofte (80–99 %) | I 2 tilstande |
| CASKcalcium/calmodulin dependent serine protein kinase | Meget ofte (80–99 %) | I 2 tilstande |
| CDKL5cyclin dependent kinase like 5 | Meget ofte (80–99 %) | I 2 tilstande |
| DMXL2Dmx like 2 | Meget ofte (80–99 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Meget ofte (80–99 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Meget ofte (80–99 %) | I 2 tilstande |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Meget ofte (80–99 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Meget ofte (80–99 %) | I 1 tilstand |
| PNPOpyridoxamine 5'-phosphate oxidase | Meget ofte (80–99 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SIK1salt inducible kinase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC32A1solute carrier family 32 member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Meget ofte (80–99 %) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Meget ofte (80–99 %) | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Ofte (30–79 %) | I 1 tilstand |
| COQ4coenzyme Q4 | Ofte (30–79 %) | I 1 tilstand |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Ofte (30–79 %) | I 1 tilstand |
| FCSKfucose kinase | Ofte (30–79 %) | I 1 tilstand |
| NRXN1neurexin 1 | Ofte (30–79 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| PMPCBpeptidase, mitochondrial processing subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| RNF13ring finger protein 13 | Ofte (30–79 %) | I 2 tilstande |
| SLC25A12solute carrier family 25 member 12 | Ofte (30–79 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Ofte (30–79 %) | I 1 tilstand |
| ZNF668zinc finger protein 668 | Ofte (30–79 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| CRLS1cardiolipin synthase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DCXdoublecortin | Nogle gange (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Nogle gange (5–29 %) | I 1 tilstand |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MEF2Cmyocyte enhancer factor 2C | Nogle gange (5–29 %) | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Nogle gange (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Nogle gange (5–29 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TRA2Btransformer 2 beta homolog | Nogle gange (5–29 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Nogle gange (5–29 %) | I 1 tilstand |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sjældent (1–4%) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Sjældent (1–4%) | I 2 tilstande |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Sjældent (1–4%) | I 1 tilstand |
| KMT2Elysine methyltransferase 2E (inactive) | Sjældent (1–4%) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Sjældent (1–4%) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjældent (1–4%) | I 2 tilstande |
| SLC2A1solute carrier family 2 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjældent (1–4%) | I 2 tilstande |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Sjældent (1–4%) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| ADAM22ADAM metallopeptidase domain 22 | Ikke registreret | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Ikke registreret | I 1 tilstand |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Ikke registreret | I 1 tilstand |
| CUX2cut like homeobox 2 | Ikke registreret | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Ikke registreret | I 1 tilstand |
| FRRS1Lferric chelate reductase 1 like | Ikke registreret | I 1 tilstand |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Ikke registreret | I 1 tilstand |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Ikke registreret | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Ikke registreret | I 1 tilstand |
| GUF1GTP binding elongation factor GUF1 | Ikke registreret | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Ikke registreret | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Ikke registreret | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Ikke registreret | I 1 tilstand |
| MDH1malate dehydrogenase 1 | Ikke registreret | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Ikke registreret | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Ikke registreret | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Ikke registreret | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| PHACTR1phosphatase and actin regulator 1 | Ikke registreret | I 1 tilstand |
| ROGDIrogdi atypical leucine zipper | Ikke registreret | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Ikke registreret | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ikke registreret | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Ikke registreret | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Ikke registreret | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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