Træk
Tonic seizure
A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.
Resumé
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
Read the genes linked to Tonic seizure, and the rest of your genome, with one test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test98 gener knyttet til Tonic seizure
Ændringer i disse gener forårsager sjældne tilstande, hvor Tonic seizure 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 |
|---|---|---|
| ARFGEF1ARF guanine nucleotide exchange factor 1 | Altid | I 1 tilstand |
| ARHGEF9Cdc42 guanine nucleotide exchange factor 9 | Altid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Altid | I 1 tilstand |
| ARXaristaless related homeobox | Altid | I 1 tilstand |
| ATP6V0CATPase H+ transporting V0 subunit c | Altid | I 1 tilstand |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Altid | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altid | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Altid | I 2 tilstande |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Altid | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Altid | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Altid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Altid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Altid | I 1 tilstand |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Altid | I 1 tilstand |
| KLHL20kelch like family member 20 | Altid | I 1 tilstand |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altid | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Altid | I 1 tilstand |
| NAPBNSF attachment protein beta | Altid | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Altid | I 1 tilstand |
| PHACTR1phosphatase and actin regulator 1 | Altid | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Altid | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Altid | I 1 tilstand |
| PLPBPpyridoxal phosphate binding protein | Altid | I 1 tilstand |
| POMKprotein O-mannose kinase | Altid | I 1 tilstand |
| PSAPprosaposin | Altid | I 1 tilstand |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Altid | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Altid | I 2 tilstande |
| SLC25A12solute carrier family 25 member 12 | Altid | I 1 tilstand |
| SV2Asynaptic vesicle glycoprotein 2A | Altid | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Altid | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Altid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Altid | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Ofte (30–79 %) | I 1 tilstand |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Ofte (30–79 %) | I 1 tilstand |
Vis 58 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| CENPEcentromere protein E | Ofte (30–79 %) | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Ofte (30–79 %) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| COG3component of oligomeric golgi complex 3 | Ofte (30–79 %) | I 1 tilstand |
| CUL3cullin 3 | Ofte (30–79 %) | I 1 tilstand |
| CUX2cut like homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| DENND5ADENN domain containing 5A | Ofte (30–79 %) | I 1 tilstand |
| DMXL2Dmx like 2 | Ofte (30–79 %) | I 1 tilstand |
| DNM1dynamin 1 | Ofte (30–79 %) | I 1 tilstand |
| DOCK7dedicator of cytokinesis 7 | Ofte (30–79 %) | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Ofte (30–79 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Ofte (30–79 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Ofte (30–79 %) | I 1 tilstand |
| HID1HID1 domain containing | Ofte (30–79 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Ofte (30–79 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Ofte (30–79 %) | I 1 tilstand |
| LNPKlunapark, ER junction formation factor | Ofte (30–79 %) | I 1 tilstand |
| MAST3microtubule associated serine/threonine kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| MTHFSmethenyltetrahydrofolate synthetase | Ofte (30–79 %) | I 1 tilstand |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | Ofte (30–79 %) | I 1 tilstand |
| PCDH12protocadherin 12 | Ofte (30–79 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RUSC2RUN and SH3 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SQORsulfide quinone oxidoreductase | Ofte (30–79 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Ofte (30–79 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Ofte (30–79 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Nogle gange (5–29 %) | I 1 tilstand |
| CEP85Lcentrosomal protein 85L | Nogle gange (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Nogle gange (5–29 %) | I 1 tilstand |
| GLULglutamate-ammonia ligase | Nogle gange (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NACC1nucleus accumbens associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PPFIBP1PPFIB scaffold protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| STX1Bsyntaxin 1B | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM147transmembrane protein 147 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Nogle gange (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Sjældent (1–4%) | I 1 tilstand |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Sjældent (1–4%) | 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.
Snævrere træk
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.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger