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Požymis
Epileptic spasm
A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages
Santrauka
- Taip pat vadinama
- Epileptic spasms, Salaam convulsion, Salaam convulsions, Salaam seizure, Salaam seizures
- Kūno sistema
- Abnormality of the nervous system
Epileptic spasmHP:0011097
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Read the genes linked to Epileptic spasm, and the rest of your genome, with one test.
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Įsigyti savo Genome Test81 genas susijęs su Epileptic spasm
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Epileptic spasm. 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 |
|---|---|---|
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Visada | 1 ligoje |
| ATP7AATPase copper transporting alpha | Visada | 1 ligoje |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Visada | 1 ligoje |
| COX4I1cytochrome c oxidase subunit 4I1 | Visada | 1 ligoje |
| DNM1dynamin 1 | Visada | 1 ligoje |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Visada | 1 ligoje |
| EIF4A2eukaryotic translation initiation factor 4A2 | Visada | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Visada | 1 ligoje |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Visada | 1 ligoje |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Visada | 1 ligoje |
| MSL2MSL complex subunit 2 | Visada | 1 ligoje |
| NCDNneurochondrin | Visada | 1 ligoje |
| PHACTR1phosphatase and actin regulator 1 | Visada | 1 ligoje |
| PLCB1phospholipase C beta 1 | Visada | 2 ligose |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Visada | 1 ligoje |
| SLC35A2solute carrier family 35 member A2 | Visada | 1 ligoje |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Visada | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Visada | 1 ligoje |
| TIMM50translocase of inner mitochondrial membrane 50 | Visada | 1 ligoje |
| TMEM63Btransmembrane protein 63B | Visada | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Labai dažnai (80–99%) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Labai dažnai (80–99%) | 2 ligose |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Dažnai (30–79%) | 2 ligose |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Dažnai (30–79%) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Dažnai (30–79%) | 1 ligoje |
| CPLX1complexin 1 | Dažnai (30–79%) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| GAD1glutamate decarboxylase 1 | Dažnai (30–79%) | 1 ligoje |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Dažnai (30–79%) | 1 ligoje |
| IFNGinterferon gamma | Dažnai (30–79%) | 2 ligose |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Dažnai (30–79%) | 2 ligose |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Dažnai (30–79%) | 1 ligoje |
| MDH2malate dehydrogenase 2 | Dažnai (30–79%) | 1 ligoje |
| MFFmitochondrial fission factor | Dažnai (30–79%) | 2 ligose |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | Dažnai (30–79%) | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| PPFIBP1PPFIB scaffold protein 1 | Dažnai (30–79%) | 1 ligoje |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Dažnai (30–79%) | 3 ligose |
| SLC1A2solute carrier family 1 member 2 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 41 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Dažnai (30–79%) | 1 ligoje |
| TRAPPC12trafficking protein particle complex subunit 12 | Dažnai (30–79%) | 2 ligose |
| TSC1TSC complex subunit 1 | Dažnai (30–79%) | 2 ligose |
| TSC2TSC complex subunit 2 | Dažnai (30–79%) | 2 ligose |
| UGDHUDP-glucose 6-dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Dažnai (30–79%) | 1 ligoje |
| ZNF526zinc finger protein 526 | Dažnai (30–79%) | 1 ligoje |
| AKT3AKT serine/threonine kinase 3 | Kartais (5–29%) | 1 ligoje |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Kartais (5–29%) | 1 ligoje |
| ASPAaspartoacylase | Kartais (5–29%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| CELF2CUGBP Elav-like family member 2 | Kartais (5–29%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Kartais (5–29%) | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Kartais (5–29%) | 1 ligoje |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Kartais (5–29%) | 1 ligoje |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Kartais (5–29%) | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Kartais (5–29%) | 1 ligoje |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Kartais (5–29%) | 1 ligoje |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Kartais (5–29%) | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Kartais (5–29%) | 1 ligoje |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Kartais (5–29%) | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Kartais (5–29%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PLPBPpyridoxal phosphate binding protein | Kartais (5–29%) | 1 ligoje |
| PRUNE1prune exopolyphosphatase 1 | Kartais (5–29%) | 1 ligoje |
| PSAT1phosphoserine aminotransferase 1 | Kartais (5–29%) | 1 ligoje |
| PURApurine rich element binding protein A | Kartais (5–29%) | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Kartais (5–29%) | 1 ligoje |
| SLC12A5solute carrier family 12 member 5 | Kartais (5–29%) | 1 ligoje |
| SLC25A22solute carrier family 25 member 22 | Kartais (5–29%) | 1 ligoje |
| SYNJ1synaptojanin 1 | Kartais (5–29%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Kartais (5–29%) | 1 ligoje |
| TBCDtubulin folding cofactor D | Kartais (5–29%) | 1 ligoje |
| SETBP1SET binding protein 1 | Retai (1–4 %) | 1 ligoje |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Neužfiksuota | 1 ligoje |
| CHD2chromodomain helicase DNA binding protein 2 | Neužfiksuota | 1 ligoje |
| NEXMIFneurite extension and migration factor | Neužfiksuota | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Neužfiksuota | 1 ligoje |
| SLC6A1solute carrier family 6 member 1 | Neužfiksuota | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating 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.
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Iš kur tai žinoma
- 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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