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Egenskap
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
Sammendrag
- Også kalt
- Epileptic spasms, Salaam convulsion, Salaam convulsions, Salaam seizure, Salaam seizures
- Kroppssystem
- Abnormality of the nervous system
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/epileptic-spasm.json"
page <- fromJSON(url)
page$trait$nameEpileptic spasmHP:0011097
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Les genene knyttet til Epileptic spasm, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test35 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Epilepsy (Full Panel)Reads 42 of these genesDNM1EEF1A2KCNC2KCNT2PHACTR1PLCB1About this report →
- Tuberous SclerosisReads 2 of these genesTSC1TSC2About this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 3 of these genesAKT3MTORPIK3CAAbout this report →
- 3-Methylglutaconic Aciduria Type 9 (TIMM50)Reads 1 of these genesTIMM50About this report →
Show 31 more reports
- Canavan DiseaseReads 1 of these genesASPAAbout this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- KCNQ2-Related Neonatal Encephalopathy with Non-Epileptic MyoclonusReads 1 of these genesKCNQ2About this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- Vici SyndromeReads 1 of these genesEPG5About this report →
- Intellectual DisabilityReads 13 of these genesST3GAL3TBL1XR1CASKEHMT1GRIN2BSMARCA2About this report →
- Disorders of Glycine & Serine MetabolismReads 2 of these genesPHGDHPSAT1About this report →
- DOORS SyndromeReads 1 of these genesTBC1D24About this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesMFFAbout this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7AAbout this report →
- Familial Hemiplegic MigraineReads 1 of these genesSCN1AAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRNU4ATACAbout this report →
- Congenital Disorders of GlycosylationReads 5 of these genesALG2SLC35A2ST3GAL3DPAGT1PIGAAbout this report →
- Hereditary Episodic AtaxiasReads 1 of these genesSCN2AAbout this report →
- Congenital Myasthenic SyndromeReads 2 of these genesALG2DPAGT1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesATP1A3SLC2A1About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 1 of these genesCACNA1BAbout this report →
- Hereditary Optic NeuropathyReads 1 of these genesATP1A3About this report →
- Inherited Neurodegenerative DisordersReads 5 of these genesATP7AWWOXASPAATP1A3TBCDAbout this report →
- Parkinson DiseaseReads 1 of these genesSYNJ1About this report →
- Cutis LaxaReads 1 of these genesATP7AAbout this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGAAbout this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesPSAT1About this report →
- Spinal Muscular AtrophyReads 1 of these genesATP7AAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesATP1A3About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesWWOXAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 2 of these genesATP7AMFFAbout this report →
- Leigh SyndromeReads 1 of these genesMFFAbout this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesATP7AAbout this report →
- Other Inherited LeukodystrophiesReads 1 of these genesASPAAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesTBC1D24About this report →
Les genene knyttet til Epileptic spasm, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test81 gener knyttet til Epileptic spasm
Endringer i disse genene forårsaker sjeldne tilstander der Epileptic spasm forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Alltid | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Alltid | I 1 tilstand |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Alltid | I 1 tilstand |
| COX4I1cytochrome c oxidase subunit 4I1 | Alltid | I 1 tilstand |
| DNM1dynamin 1 | Alltid | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Alltid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alltid | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Alltid | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Alltid | I 1 tilstand |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Alltid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Alltid | I 1 tilstand |
| NCDNneurochondrin | Alltid | I 1 tilstand |
| PHACTR1phosphatase and actin regulator 1 | Alltid | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Alltid | I 2 tilstander |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Alltid | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Alltid | I 1 tilstand |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Alltid | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Alltid | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Alltid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Alltid | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Ofte (30–79 %) | I 2 tilstander |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Ofte (30–79 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Ofte (30–79 %) | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Ofte (30–79 %) | I 1 tilstand |
| IFNGinterferon gamma | Ofte (30–79 %) | I 2 tilstander |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Ofte (30–79 %) | I 2 tilstander |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Ofte (30–79 %) | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Ofte (30–79 %) | I 1 tilstand |
| MFFmitochondrial fission factor | Ofte (30–79 %) | I 2 tilstander |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | Ofte (30–79 %) | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| PPFIBP1PPFIB scaffold protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 3 tilstander |
| SLC1A2solute carrier family 1 member 2 | Ofte (30–79 %) | I 1 tilstand |
Vis 41 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC12trafficking protein particle complex subunit 12 | Ofte (30–79 %) | I 2 tilstander |
| TSC1TSC complex subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| TSC2TSC complex subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| UGDHUDP-glucose 6-dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Ofte (30–79 %) | I 1 tilstand |
| ZNF526zinc finger protein 526 | Ofte (30–79 %) | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Noen ganger (5–29 %) | I 1 tilstand |
| ASPAaspartoacylase | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Noen ganger (5–29 %) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Noen ganger (5–29 %) | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PLPBPpyridoxal phosphate binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PSAT1phosphoserine aminotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Noen ganger (5–29 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Noen ganger (5–29 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Noen ganger (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Ikke registrert | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Ikke registrert | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Ikke registrert | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ikke registrert | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Ikke registrert | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.19-9814e911.
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Read the genes behind these traits in your own DNA.
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