Trait
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
Summary
- Also called
- Epileptic spasms, Salaam convulsion, Salaam convulsions, Salaam seizure, Salaam seizures
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Get my Genome Test81 genes linked to Epileptic spasm
Changes in these genes cause rare conditions in which Epileptic spasm is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Always | In 1 condition |
| ATP7AATPase copper transporting alpha | Always | In 1 condition |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Always | In 1 condition |
| COX4I1cytochrome c oxidase subunit 4I1 | Always | In 1 condition |
| DNM1dynamin 1 | Always | In 1 condition |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Always | In 1 condition |
| EIF4A2eukaryotic translation initiation factor 4A2 | Always | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Always | In 1 condition |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Always | In 1 condition |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Always | In 1 condition |
| MSL2MSL complex subunit 2 | Always | In 1 condition |
| NCDNneurochondrin | Always | In 1 condition |
| PHACTR1phosphatase and actin regulator 1 | Always | In 1 condition |
| PLCB1phospholipase C beta 1 | Always | In 2 conditions |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Always | In 1 condition |
| SLC35A2solute carrier family 35 member A2 | Always | In 1 condition |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Always | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Always | In 1 condition |
| TIMM50translocase of inner mitochondrial membrane 50 | Always | In 1 condition |
| TMEM63Btransmembrane protein 63B | Always | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Very often (80–99%) | In 1 condition |
| STXBP1syntaxin binding protein 1 | Very often (80–99%) | In 2 conditions |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Often (30–79%) | In 2 conditions |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Often (30–79%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Often (30–79%) | In 1 condition |
| CPLX1complexin 1 | Often (30–79%) | In 1 condition |
| EHMT1euchromatic histone lysine methyltransferase 1 | Often (30–79%) | In 1 condition |
| GAD1glutamate decarboxylase 1 | Often (30–79%) | In 1 condition |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Often (30–79%) | In 1 condition |
| IFNGinterferon gamma | Often (30–79%) | In 2 conditions |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Often (30–79%) | In 2 conditions |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Often (30–79%) | In 1 condition |
| MDH2malate dehydrogenase 2 | Often (30–79%) | In 1 condition |
| MFFmitochondrial fission factor | Often (30–79%) | In 2 conditions |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | Often (30–79%) | In 1 condition |
| PHGDHphosphoglycerate dehydrogenase | Often (30–79%) | In 1 condition |
| PPFIBP1PPFIB scaffold protein 1 | Often (30–79%) | In 1 condition |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Often (30–79%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Often (30–79%) | In 3 conditions |
| SLC1A2solute carrier family 1 member 2 | Often (30–79%) | In 1 condition |
Show 41 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Often (30–79%) | In 1 condition |
| TRAPPC12trafficking protein particle complex subunit 12 | Often (30–79%) | In 2 conditions |
| TSC1TSC complex subunit 1 | Often (30–79%) | In 2 conditions |
| TSC2TSC complex subunit 2 | Often (30–79%) | In 2 conditions |
| UGDHUDP-glucose 6-dehydrogenase | Often (30–79%) | In 1 condition |
| WWOXWW domain containing oxidoreductase | Often (30–79%) | In 1 condition |
| ZNF526zinc finger protein 526 | Often (30–79%) | In 1 condition |
| AKT3AKT serine/threonine kinase 3 | Sometimes (5–29%) | In 1 condition |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Sometimes (5–29%) | In 1 condition |
| ASPAaspartoacylase | Sometimes (5–29%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sometimes (5–29%) | In 1 condition |
| CELF2CUGBP Elav-like family member 2 | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 1 condition |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Sometimes (5–29%) | In 1 condition |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Sometimes (5–29%) | In 1 condition |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Sometimes (5–29%) | In 1 condition |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sometimes (5–29%) | In 1 condition |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Sometimes (5–29%) | In 1 condition |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Sometimes (5–29%) | In 1 condition |
| MTORmechanistic target of rapamycin kinase | Sometimes (5–29%) | In 1 condition |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Sometimes (5–29%) | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Sometimes (5–29%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| PLPBPpyridoxal phosphate binding protein | Sometimes (5–29%) | In 1 condition |
| PRUNE1prune exopolyphosphatase 1 | Sometimes (5–29%) | In 1 condition |
| PSAT1phosphoserine aminotransferase 1 | Sometimes (5–29%) | In 1 condition |
| PURApurine rich element binding protein A | Sometimes (5–29%) | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Sometimes (5–29%) | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sometimes (5–29%) | In 1 condition |
| SLC12A5solute carrier family 12 member 5 | Sometimes (5–29%) | In 1 condition |
| SLC25A22solute carrier family 25 member 22 | Sometimes (5–29%) | In 1 condition |
| SYNJ1synaptojanin 1 | Sometimes (5–29%) | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Sometimes (5–29%) | In 1 condition |
| TBCDtubulin folding cofactor D | Sometimes (5–29%) | In 1 condition |
| SETBP1SET binding protein 1 | Rarely (1–4%) | In 1 condition |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Not recorded | In 1 condition |
| CHD2chromodomain helicase DNA binding protein 2 | Not recorded | In 1 condition |
| NEXMIFneurite extension and migration factor | Not recorded | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Not recorded | In 1 condition |
| SLC6A1solute carrier family 6 member 1 | Not recorded | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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