Who We HelpOur ScienceProductsOutcomes
Log InAskGet Startedfrom $449
Trait
Infantile spasms
Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
Summary
- Body system
- Abnormality of the nervous system
Infantile spasmsHP:0012469
Who We HelpOur ScienceProductsOutcomes
Log InAskGet Startedfrom $449
Read the genes linked to Infantile spasms, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test178 genes linked to Infantile spasms
Changes in these genes cause rare conditions in which Infantile spasms 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 |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Always | In 2 conditions |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Always | In 1 condition |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Always | In 2 conditions |
| ARFGEF1ARF guanine nucleotide exchange factor 1 | Always | In 1 condition |
| ARID2AT-rich interaction domain 2 | Always | In 1 condition |
| ARXaristaless related homeobox | Always | In 4 conditions |
| ATP6V0CATPase H+ transporting V0 subunit c | Always | In 1 condition |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Always | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Always | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Always | In 1 condition |
| EIF4A2eukaryotic translation initiation factor 4A2 | Always | In 1 condition |
| ERCC5ERCC excision repair 5, endonuclease | Always | In 1 condition |
| ERMARDER membrane associated RNA degradation | Always | In 1 condition |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Always | In 2 conditions |
| GCSHglycine cleavage system protein H | Always | In 1 condition |
| GOLGA2golgin A2 | Always | In 1 condition |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Always | In 2 conditions |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Always | In 1 condition |
| KLHL20kelch like family member 20 | Always | In 1 condition |
| NEUROD2neuronal differentiation 2 | Always | In 2 conditions |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Always | In 1 condition |
| RBSNrabenosyn, RAB effector | Always | In 1 condition |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Always | In 1 condition |
| SLC25A10solute carrier family 25 member 10 | Always | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Always | In 2 conditions |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| TMEM63Btransmembrane protein 63B | Always | In 1 condition |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Always | In 1 condition |
| VPS53VPS53 subunit of GARP complex | Always | In 1 condition |
| CDKL5cyclin dependent kinase like 5 | Very often (80–99%) | In 5 conditions |
| CNPY3canopy FGF signaling regulator 3 | Very often (80–99%) | In 1 condition |
| DMXL2Dmx like 2 | Very often (80–99%) | In 2 conditions |
| GUF1GTP binding elongation factor GUF1 | Very often (80–99%) | In 1 condition |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Very often (80–99%) | In 1 condition |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Very often (80–99%) | In 1 condition |
| PHACTR1phosphatase and actin regulator 1 | Very often (80–99%) | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Very often (80–99%) | In 2 conditions |
| PLCB1phospholipase C beta 1 | Very often (80–99%) | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Very often (80–99%) | In 2 conditions |
| SIK1salt inducible kinase 1 | Very often (80–99%) | In 2 conditions |
Show 138 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SPTAN1spectrin alpha, non-erythrocytic 1 | Very often (80–99%) | In 2 conditions |
| STRADASTE20 related adaptor alpha | Very often (80–99%) | In 1 condition |
| WDR45WD repeat domain 45 | Very often (80–99%) | In 1 condition |
| ZNHIT3zinc finger HIT-type containing 3 | Very often (80–99%) | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Often (30–79%) | In 1 condition |
| CDK19cyclin dependent kinase 19 | Often (30–79%) | In 1 condition |
| CUL3cullin 3 | Often (30–79%) | In 1 condition |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Often (30–79%) | In 1 condition |
| DCXdoublecortin | Often (30–79%) | In 1 condition |
| DNM1dynamin 1 | Often (30–79%) | In 1 condition |
| DOCK7dedicator of cytokinesis 7 | Often (30–79%) | In 2 conditions |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Often (30–79%) | In 1 condition |
| FBLN1fibulin 1 | Often (30–79%) | In 1 condition |
| FBXO28F-box protein 28 | Often (30–79%) | In 1 condition |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Often (30–79%) | In 1 condition |
| GNAQG protein subunit alpha q | Often (30–79%) | In 1 condition |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Often (30–79%) | In 1 condition |
| IFNGinterferon gamma | Often (30–79%) | In 2 conditions |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Often (30–79%) | In 1 condition |
| NACC1nucleus accumbens associated 1 | Often (30–79%) | In 1 condition |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Often (30–79%) | In 1 condition |
| OTUD7AOTU deubiquitinase 7A | Often (30–79%) | In 1 condition |
| PCDH12protocadherin 12 | Often (30–79%) | In 1 condition |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Often (30–79%) | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Often (30–79%) | In 1 condition |
| RUSC2RUN and SH3 domain containing 2 | Often (30–79%) | In 1 condition |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Often (30–79%) | In 1 condition |
| SLC35A2solute carrier family 35 member A2 | Often (30–79%) | In 1 condition |
| STAMBPSTAM binding protein | Often (30–79%) | In 1 condition |
| TRA2Btransformer 2 beta homolog | Often (30–79%) | In 1 condition |
| TSC1TSC complex subunit 1 | Often (30–79%) | In 2 conditions |
| TSC2TSC complex subunit 2 | Often (30–79%) | In 2 conditions |
| TSEN15tRNA splicing endonuclease subunit 15 | Often (30–79%) | In 1 condition |
| TSEN2tRNA splicing endonuclease subunit 2 | Often (30–79%) | In 1 condition |
| TSEN34tRNA splicing endonuclease subunit 34 | Often (30–79%) | In 1 condition |
| TSEN54tRNA splicing endonuclease subunit 54 | Often (30–79%) | In 1 condition |
| TUBB2Atubulin beta 2A class IIa | Often (30–79%) | In 1 condition |
| TUBG1tubulin gamma 1 | Often (30–79%) | In 1 condition |
| UBA5ubiquitin like modifier activating enzyme 5 | Often (30–79%) | In 1 condition |
| UFSP2UFM1 specific peptidase 2 | Often (30–79%) | In 1 condition |
| UNC13Aunc-13 homolog A | Often (30–79%) | In 1 condition |
| ACTL6Bactin like 6B | Sometimes (5–29%) | In 1 condition |
| ADGRG1adhesion G protein-coupled receptor G1 | Sometimes (5–29%) | In 1 condition |
| AFG2AAAA ATPase AFG2A | Sometimes (5–29%) | In 1 condition |
| AFG2BAAA ATPase AFG2B | Sometimes (5–29%) | In 1 condition |
| APC2APC regulator of Wnt signaling pathway 2 | Sometimes (5–29%) | In 1 condition |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Sometimes (5–29%) | In 1 condition |
| BTDbiotinidase | Sometimes (5–29%) | In 1 condition |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Sometimes (5–29%) | In 1 condition |
| CAPRIN1cell cycle associated protein 1 | Sometimes (5–29%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Sometimes (5–29%) | In 1 condition |
| CDC40cell division cycle 40 | Sometimes (5–29%) | In 1 condition |
| CDH2cadherin 2 | Sometimes (5–29%) | In 1 condition |
| CEP85Lcentrosomal protein 85L | Sometimes (5–29%) | In 1 condition |
| CLCN4Cl-/H+ antiporter 4 | Sometimes (5–29%) | In 1 condition |
| CNTNAP2contactin associated protein 2 | Sometimes (5–29%) | In 1 condition |
| CRELD1CRELD disulfide isomerase 1 | Sometimes (5–29%) | In 1 condition |
| CTNNA2catenin alpha 2 | Sometimes (5–29%) | In 1 condition |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sometimes (5–29%) | In 2 conditions |
| DHX16DEAH-box helicase 16 | Sometimes (5–29%) | In 1 condition |
| DHX37DEAH-box helicase 37 | Sometimes (5–29%) | In 1 condition |
| DOLKdolichol kinase | Sometimes (5–29%) | In 1 condition |
| FDXRferredoxin reductase | Sometimes (5–29%) | In 1 condition |
| FHfumarate hydratase | Sometimes (5–29%) | In 1 condition |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sometimes (5–29%) | In 1 condition |
| GCDHglutaryl-CoA dehydrogenase | Sometimes (5–29%) | In 1 condition |
| GLULglutamate-ammonia ligase | Sometimes (5–29%) | In 1 condition |
| GNAO1G protein subunit alpha o1 | Sometimes (5–29%) | In 2 conditions |
| GNB1G protein subunit beta 1 | Sometimes (5–29%) | In 1 condition |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sometimes (5–29%) | In 2 conditions |
| GRM7glutamate metabotropic receptor 7 | Sometimes (5–29%) | In 1 condition |
| HCFC1host cell factor C1 | Sometimes (5–29%) | In 1 condition |
| HDAC4histone deacetylase 4 | Sometimes (5–29%) | In 1 condition |
| HK1hexokinase 1 | Sometimes (5–29%) | In 1 condition |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sometimes (5–29%) | In 1 condition |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Sometimes (5–29%) | In 1 condition |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Sometimes (5–29%) | In 1 condition |
| KDM4Blysine demethylase 4B | Sometimes (5–29%) | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Sometimes (5–29%) | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Sometimes (5–29%) | In 1 condition |
| MACF1microtubule actin crosslinking factor 1 | Sometimes (5–29%) | In 2 conditions |
| MAPK1mitogen-activated protein kinase 1 | Sometimes (5–29%) | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Sometimes (5–29%) | In 1 condition |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Sometimes (5–29%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Sometimes (5–29%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sometimes (5–29%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sometimes (5–29%) | In 1 condition |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Sometimes (5–29%) | In 1 condition |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Sometimes (5–29%) | In 1 condition |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sometimes (5–29%) | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sometimes (5–29%) | In 1 condition |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sometimes (5–29%) | In 1 condition |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Sometimes (5–29%) | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sometimes (5–29%) | In 1 condition |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Sometimes (5–29%) | In 1 condition |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sometimes (5–29%) | In 1 condition |
| NAXDNAD(P)HX dehydratase | Sometimes (5–29%) | In 1 condition |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Sometimes (5–29%) | In 1 condition |
| NEXMIFneurite extension and migration factor | Sometimes (5–29%) | In 1 condition |
| NGLY1N-glycanase 1 | Sometimes (5–29%) | In 1 condition |
| NPRL2NPR2 like, GATOR1 complex subunit | Sometimes (5–29%) | In 1 condition |
| NPRL3NPR3 like, GATOR1 complex subunit | Sometimes (5–29%) | In 1 condition |
| NTNG1netrin G1 | Sometimes (5–29%) | In 1 condition |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Sometimes (5–29%) | In 1 condition |
| PI4KAphosphatidylinositol 4-kinase alpha | Sometimes (5–29%) | In 1 condition |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Sometimes (5–29%) | In 1 condition |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Sometimes (5–29%) | In 1 condition |
| PNKPpolynucleotide kinase 3'-phosphatase | Sometimes (5–29%) | In 1 condition |
| POLR1ARNA polymerase I subunit A | Sometimes (5–29%) | In 1 condition |
| PPIL1peptidylprolyl isomerase like 1 | Sometimes (5–29%) | In 1 condition |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Sometimes (5–29%) | In 1 condition |
| PRRT2proline rich transmembrane protein 2 | Sometimes (5–29%) | In 2 conditions |
| RHOBTB2Rho related BTB domain containing 2 | Sometimes (5–29%) | In 1 condition |
| RNF13ring finger protein 13 | Sometimes (5–29%) | In 1 condition |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sometimes (5–29%) | In 1 condition |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Sometimes (5–29%) | In 1 condition |
| SLC19A3solute carrier family 19 member 3 | Sometimes (5–29%) | In 1 condition |
| SLC1A4solute carrier family 1 member 4 | Sometimes (5–29%) | In 1 condition |
| SLC25A22solute carrier family 25 member 22 | Sometimes (5–29%) | In 1 condition |
| SLC32A1solute carrier family 32 member 1 | Sometimes (5–29%) | In 1 condition |
| SRPX2sushi repeat containing protein X-linked 2 | Sometimes (5–29%) | In 1 condition |
| STXBP1syntaxin binding protein 1 | Sometimes (5–29%) | In 1 condition |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Sometimes (5–29%) | In 1 condition |
| TANGO2transport and golgi organization 2 homolog | Sometimes (5–29%) | In 1 condition |
| TRIM8tripartite motif containing 8 | Sometimes (5–29%) | In 2 conditions |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Sometimes (5–29%) | In 1 condition |
| TUBA1Atubulin alpha 1a | Sometimes (5–29%) | In 2 conditions |
| TUBA8tubulin alpha 8 | Sometimes (5–29%) | In 1 condition |
| TUBB2Btubulin beta 2B class IIb | Sometimes (5–29%) | In 2 conditions |
| TUBB3tubulin beta 3 class III | Sometimes (5–29%) | In 1 condition |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Sometimes (5–29%) | In 1 condition |
| ZFHX3zinc finger homeobox 3 | Sometimes (5–29%) | In 1 condition |
| ACBD6acyl-CoA binding domain containing 6 | Rarely (1–4%) | In 1 condition |
| ASAH1N-acylsphingosine amidohydrolase 1 | Rarely (1–4%) | In 1 condition |
| CHD3chromodomain helicase DNA binding protein 3 | Rarely (1–4%) | In 1 condition |
| FBXL4F-box and leucine rich repeat protein 4 | Rarely (1–4%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | 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.
Broader traits
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.
Who We HelpOur ScienceProductsOutcomes
Log InAskGet Startedfrom $449
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks