{
  "url": "https://dantelabs.com/traits/epileptic-spasm",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "epileptic-spasm",
    "id": "HP:0011097",
    "name": "Epileptic spasm",
    "definition": "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",
    "synonyms": [
      "Epileptic spasms",
      "Salaam convulsion",
      "Salaam convulsions",
      "Salaam seizure",
      "Salaam seizures"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      }
    ],
    "broader": [
      {
        "slug": "motor-seizure",
        "name": "Motor seizure",
        "url": "https://dantelabs.com/traits/motor-seizure"
      }
    ],
    "narrower": [
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "genes": 178,
        "url": "https://dantelabs.com/traits/infantile-spasms"
      }
    ],
    "genes": [
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "hgnc": "HGNC:23159",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg2"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "hgnc": "HGNC:869",
        "name": "ATPase copper transporting alpha",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp7a"
      },
      {
        "slug": "baiap2",
        "symbol": "BAIAP2",
        "hgnc": "HGNC:947",
        "name": "BAR/IMD domain containing adaptor protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/baiap2"
      },
      {
        "slug": "cox4i1",
        "symbol": "COX4I1",
        "hgnc": "HGNC:2265",
        "name": "cytochrome c oxidase subunit 4I1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox4i1"
      },
      {
        "slug": "dnm1",
        "symbol": "DNM1",
        "hgnc": "HGNC:2972",
        "name": "dynamin 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnm1"
      },
      {
        "slug": "eef1a2",
        "symbol": "EEF1A2",
        "hgnc": "HGNC:3192",
        "name": "eukaryotic translation elongation factor 1 alpha 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eef1a2"
      },
      {
        "slug": "eif4a2",
        "symbol": "EIF4A2",
        "hgnc": "HGNC:3284",
        "name": "eukaryotic translation initiation factor 4A2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eif4a2"
      },
      {
        "slug": "epg5",
        "symbol": "EPG5",
        "hgnc": "HGNC:29331",
        "name": "ectopic P-granules 5 autophagy tethering factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/epg5"
      },
      {
        "slug": "kcnc2",
        "symbol": "KCNC2",
        "hgnc": "HGNC:6234",
        "name": "potassium voltage-gated channel subfamily C member 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnc2"
      },
      {
        "slug": "kcnt2",
        "symbol": "KCNT2",
        "hgnc": "HGNC:18866",
        "name": "potassium sodium-activated channel subfamily T member 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnt2"
      },
      {
        "slug": "msl2",
        "symbol": "MSL2",
        "hgnc": "HGNC:25544",
        "name": "MSL complex subunit 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/msl2"
      },
      {
        "slug": "ncdn",
        "symbol": "NCDN",
        "hgnc": "HGNC:17597",
        "name": "neurochondrin",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncdn"
      },
      {
        "slug": "phactr1",
        "symbol": "PHACTR1",
        "hgnc": "HGNC:20990",
        "name": "phosphatase and actin regulator 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phactr1"
      },
      {
        "slug": "plcb1",
        "symbol": "PLCB1",
        "hgnc": "HGNC:15917",
        "name": "phospholipase C beta 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/plcb1"
      },
      {
        "slug": "scn8a",
        "symbol": "SCN8A",
        "hgnc": "HGNC:10596",
        "name": "sodium voltage-gated channel alpha subunit 8",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn8a"
      },
      {
        "slug": "slc35a2",
        "symbol": "SLC35A2",
        "hgnc": "HGNC:11022",
        "name": "solute carrier family 35 member A2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc35a2"
      },
      {
        "slug": "st3gal3",
        "symbol": "ST3GAL3",
        "hgnc": "HGNC:10866",
        "name": "ST3 beta-galactoside alpha-2,3-sialyltransferase 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/st3gal3"
      },
      {
        "slug": "tbl1xr1",
        "symbol": "TBL1XR1",
        "hgnc": "HGNC:29529",
        "name": "TBL1X/Y related 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbl1xr1"
      },
      {
        "slug": "timm50",
        "symbol": "TIMM50",
        "hgnc": "HGNC:23656",
        "name": "translocase of inner mitochondrial membrane 50",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/timm50"
      },
      {
        "slug": "tmem63b",
        "symbol": "TMEM63B",
        "hgnc": "HGNC:17735",
        "name": "transmembrane protein 63B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem63b"
      },
      {
        "slug": "rnu4atac",
        "symbol": "RNU4ATAC",
        "hgnc": "HGNC:34016",
        "name": "RNA, U4atac small nuclear",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4atac"
      },
      {
        "slug": "stxbp1",
        "symbol": "STXBP1",
        "hgnc": "HGNC:11444",
        "name": "syntaxin binding protein 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/stxbp1"
      },
      {
        "slug": "atp6v0a1",
        "symbol": "ATP6V0A1",
        "hgnc": "HGNC:865",
        "name": "ATPase H+ transporting V0 subunit a1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/atp6v0a1"
      },
      {
        "slug": "cacna1b",
        "symbol": "CACNA1B",
        "hgnc": "HGNC:1389",
        "name": "calcium voltage-gated channel subunit alpha1 B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1b"
      },
      {
        "slug": "cask",
        "symbol": "CASK",
        "hgnc": "HGNC:1497",
        "name": "calcium/calmodulin dependent serine protein kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cask"
      },
      {
        "slug": "cplx1",
        "symbol": "CPLX1",
        "hgnc": "HGNC:2309",
        "name": "complexin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cplx1"
      },
      {
        "slug": "ehmt1",
        "symbol": "EHMT1",
        "hgnc": "HGNC:24650",
        "name": "euchromatic histone lysine methyltransferase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ehmt1"
      },
      {
        "slug": "gad1",
        "symbol": "GAD1",
        "hgnc": "HGNC:4092",
        "name": "glutamate decarboxylase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gad1"
      },
      {
        "slug": "grin2b",
        "symbol": "GRIN2B",
        "hgnc": "HGNC:4586",
        "name": "glutamate ionotropic receptor NMDA type subunit 2B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grin2b"
      },
      {
        "slug": "ifng",
        "symbol": "IFNG",
        "hgnc": "HGNC:5438",
        "name": "interferon gamma",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ifng"
      },
      {
        "slug": "kcnq2",
        "symbol": "KCNQ2",
        "hgnc": "HGNC:6296",
        "name": "potassium voltage-gated channel subfamily Q member 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kcnq2"
      },
      {
        "slug": "mdga2",
        "symbol": "MDGA2",
        "hgnc": "HGNC:19835",
        "name": "MAM domain containing glycosylphosphatidylinositol anchor 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mdga2"
      },
      {
        "slug": "mdh2",
        "symbol": "MDH2",
        "hgnc": "HGNC:6971",
        "name": "malate dehydrogenase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mdh2"
      },
      {
        "slug": "mff",
        "symbol": "MFF",
        "hgnc": "HGNC:24858",
        "name": "mitochondrial fission factor",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mff"
      },
      {
        "slug": "nsf",
        "symbol": "NSF",
        "hgnc": "HGNC:8016",
        "name": "N-ethylmaleimide sensitive factor, vesicle fusing ATPase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsf"
      },
      {
        "slug": "phgdh",
        "symbol": "PHGDH",
        "hgnc": "HGNC:8923",
        "name": "phosphoglycerate dehydrogenase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phgdh"
      },
      {
        "slug": "ppfibp1",
        "symbol": "PPFIBP1",
        "hgnc": "HGNC:9249",
        "name": "PPFIB scaffold protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppfibp1"
      },
      {
        "slug": "ppp3ca",
        "symbol": "PPP3CA",
        "hgnc": "HGNC:9314",
        "name": "protein phosphatase 3 catalytic subunit alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp3ca"
      },
      {
        "slug": "scn1a",
        "symbol": "SCN1A",
        "hgnc": "HGNC:10585",
        "name": "sodium voltage-gated channel alpha subunit 1",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/scn1a"
      },
      {
        "slug": "slc1a2",
        "symbol": "SLC1A2",
        "hgnc": "HGNC:10940",
        "name": "solute carrier family 1 member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc1a2"
      },
      {
        "slug": "smarca2",
        "symbol": "SMARCA2",
        "hgnc": "HGNC:11098",
        "name": "SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smarca2"
      },
      {
        "slug": "trappc12",
        "symbol": "TRAPPC12",
        "hgnc": "HGNC:24284",
        "name": "trafficking protein particle complex subunit 12",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/trappc12"
      },
      {
        "slug": "tsc1",
        "symbol": "TSC1",
        "hgnc": "HGNC:12362",
        "name": "TSC complex subunit 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tsc1"
      },
      {
        "slug": "tsc2",
        "symbol": "TSC2",
        "hgnc": "HGNC:12363",
        "name": "TSC complex subunit 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tsc2"
      },
      {
        "slug": "ugdh",
        "symbol": "UGDH",
        "hgnc": "HGNC:12525",
        "name": "UDP-glucose 6-dehydrogenase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ugdh"
      },
      {
        "slug": "wwox",
        "symbol": "WWOX",
        "hgnc": "HGNC:12799",
        "name": "WW domain containing oxidoreductase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wwox"
      },
      {
        "slug": "znf526",
        "symbol": "ZNF526",
        "hgnc": "HGNC:29415",
        "name": "zinc finger protein 526",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf526"
      },
      {
        "slug": "akt3",
        "symbol": "AKT3",
        "hgnc": "HGNC:393",
        "name": "AKT serine/threonine kinase 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/akt3"
      },
      {
        "slug": "aldh7a1",
        "symbol": "ALDH7A1",
        "hgnc": "HGNC:877",
        "name": "aldehyde dehydrogenase 7 family member A1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aldh7a1"
      },
      {
        "slug": "aspa",
        "symbol": "ASPA",
        "hgnc": "HGNC:756",
        "name": "aspartoacylase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aspa"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "hgnc": "HGNC:801",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp1a3"
      },
      {
        "slug": "celf2",
        "symbol": "CELF2",
        "hgnc": "HGNC:2550",
        "name": "CUGBP Elav-like family member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/celf2"
      },
      {
        "slug": "dpagt1",
        "symbol": "DPAGT1",
        "hgnc": "HGNC:2995",
        "name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dpagt1"
      },
      {
        "slug": "elfn1",
        "symbol": "ELFN1",
        "hgnc": "HGNC:33154",
        "name": "extracellular leucine rich repeat and fibronectin type III domain containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/elfn1"
      },
      {
        "slug": "gabra3",
        "symbol": "GABRA3",
        "hgnc": "HGNC:4077",
        "name": "gamma-aminobutyric acid type A receptor subunit alpha3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabra3"
      },
      {
        "slug": "grik2",
        "symbol": "GRIK2",
        "hgnc": "HGNC:4580",
        "name": "glutamate ionotropic receptor kainate type subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grik2"
      },
      {
        "slug": "grin1",
        "symbol": "GRIN1",
        "hgnc": "HGNC:4584",
        "name": "glutamate ionotropic receptor NMDA type subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grin1"
      },
      {
        "slug": "grin2a",
        "symbol": "GRIN2A",
        "hgnc": "HGNC:4585",
        "name": "glutamate ionotropic receptor NMDA type subunit 2A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grin2a"
      },
      {
        "slug": "kcnt1",
        "symbol": "KCNT1",
        "hgnc": "HGNC:18865",
        "name": "potassium sodium-activated channel subfamily T member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnt1"
      },
      {
        "slug": "mtor",
        "symbol": "MTOR",
        "hgnc": "HGNC:3942",
        "name": "mechanistic target of rapamycin kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mtor"
      },
      {
        "slug": "pi4k2a",
        "symbol": "PI4K2A",
        "hgnc": "HGNC:30031",
        "name": "phosphatidylinositol 4-kinase type 2 alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pi4k2a"
      },
      {
        "slug": "piga",
        "symbol": "PIGA",
        "hgnc": "HGNC:8957",
        "name": "phosphatidylinositol glycan anchor biosynthesis class A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/piga"
      },
      {
        "slug": "pik3ca",
        "symbol": "PIK3CA",
        "hgnc": "HGNC:8975",
        "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3ca"
      },
      {
        "slug": "plpbp",
        "symbol": "PLPBP",
        "hgnc": "HGNC:9457",
        "name": "pyridoxal phosphate binding protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plpbp"
      },
      {
        "slug": "prune1",
        "symbol": "PRUNE1",
        "hgnc": "HGNC:13420",
        "name": "prune exopolyphosphatase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prune1"
      },
      {
        "slug": "psat1",
        "symbol": "PSAT1",
        "hgnc": "HGNC:19129",
        "name": "phosphoserine aminotransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/psat1"
      },
      {
        "slug": "pura",
        "symbol": "PURA",
        "hgnc": "HGNC:9701",
        "name": "purine rich element binding protein A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pura"
      },
      {
        "slug": "rnu2-2",
        "symbol": "RNU2-2",
        "hgnc": "HGNC:10152",
        "name": "RNA, U2 small nuclear 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu2-2"
      },
      {
        "slug": "scn2a",
        "symbol": "SCN2A",
        "hgnc": "HGNC:10588",
        "name": "sodium voltage-gated channel alpha subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn2a"
      },
      {
        "slug": "slc12a5",
        "symbol": "SLC12A5",
        "hgnc": "HGNC:13818",
        "name": "solute carrier family 12 member 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc12a5"
      },
      {
        "slug": "slc25a22",
        "symbol": "SLC25A22",
        "hgnc": "HGNC:19954",
        "name": "solute carrier family 25 member 22",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc25a22"
      },
      {
        "slug": "synj1",
        "symbol": "SYNJ1",
        "hgnc": "HGNC:11503",
        "name": "synaptojanin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/synj1"
      },
      {
        "slug": "tbc1d24",
        "symbol": "TBC1D24",
        "hgnc": "HGNC:29203",
        "name": "TBC1 domain family member 24",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d24"
      },
      {
        "slug": "tbcd",
        "symbol": "TBCD",
        "hgnc": "HGNC:11581",
        "name": "tubulin folding cofactor D",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbcd"
      },
      {
        "slug": "setbp1",
        "symbol": "SETBP1",
        "hgnc": "HGNC:15573",
        "name": "SET binding protein 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/setbp1"
      },
      {
        "slug": "ap2m1",
        "symbol": "AP2M1",
        "hgnc": "HGNC:564",
        "name": "adaptor related protein complex 2 subunit mu 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap2m1"
      },
      {
        "slug": "chd2",
        "symbol": "CHD2",
        "hgnc": "HGNC:1917",
        "name": "chromodomain helicase DNA binding protein 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chd2"
      },
      {
        "slug": "nexmif",
        "symbol": "NEXMIF",
        "hgnc": "HGNC:29433",
        "name": "neurite extension and migration factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nexmif"
      },
      {
        "slug": "slc2a1",
        "symbol": "SLC2A1",
        "hgnc": "HGNC:11005",
        "name": "solute carrier family 2 member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc2a1"
      },
      {
        "slug": "slc6a1",
        "symbol": "SLC6A1",
        "hgnc": "HGNC:11042",
        "name": "solute carrier family 6 member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc6a1"
      },
      {
        "slug": "syngap1",
        "symbol": "SYNGAP1",
        "hgnc": "HGNC:11497",
        "name": "synaptic Ras GTPase activating protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syngap1"
      }
    ]
  }
}