{
  "url": "https://dantelabs.com/traits/episodic-ataxia",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "episodic-ataxia",
    "id": "HP:0002131",
    "name": "Episodic ataxia",
    "definition": "Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.",
    "synonyms": [
      "Intermittent cerebellar ataxia",
      "Paroxysmal ataxia"
    ],
    "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": "ataxia",
        "name": "Ataxia",
        "url": "https://dantelabs.com/traits/ataxia"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "hgnc": "HGNC:801",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp1a3"
      },
      {
        "slug": "eefsec",
        "symbol": "EEFSEC",
        "hgnc": "HGNC:24614",
        "name": "eukaryotic elongation factor, selenocysteine-tRNA specific",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eefsec"
      },
      {
        "slug": "rnu6atac",
        "symbol": "RNU6ATAC",
        "hgnc": "HGNC:34017",
        "name": "RNA, U6atac small nuclear",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu6atac"
      },
      {
        "slug": "scn2a",
        "symbol": "SCN2A",
        "hgnc": "HGNC:10588",
        "name": "sodium voltage-gated channel alpha subunit 2",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/scn2a"
      },
      {
        "slug": "slc1a3",
        "symbol": "SLC1A3",
        "hgnc": "HGNC:10941",
        "name": "solute carrier family 1 member 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc1a3"
      },
      {
        "slug": "dagla",
        "symbol": "DAGLA",
        "hgnc": "HGNC:1165",
        "name": "diacylglycerol lipase alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dagla"
      },
      {
        "slug": "slc2a1",
        "symbol": "SLC2A1",
        "hgnc": "HGNC:11005",
        "name": "solute carrier family 2 member 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/slc2a1"
      },
      {
        "slug": "tpk1",
        "symbol": "TPK1",
        "hgnc": "HGNC:17358",
        "name": "thiamin pyrophosphokinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpk1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "hgnc": "HGNC:18060",
        "name": "aristaless related homeobox",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arx"
      },
      {
        "slug": "cacna1e",
        "symbol": "CACNA1E",
        "hgnc": "HGNC:1392",
        "name": "calcium voltage-gated channel subunit alpha1 E",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1e"
      },
      {
        "slug": "cacnb4",
        "symbol": "CACNB4",
        "hgnc": "HGNC:1404",
        "name": "calcium voltage-gated channel auxiliary subunit beta 4",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cacnb4"
      },
      {
        "slug": "cask",
        "symbol": "CASK",
        "hgnc": "HGNC:1497",
        "name": "calcium/calmodulin dependent serine protein kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cask"
      },
      {
        "slug": "cdkl5",
        "symbol": "CDKL5",
        "hgnc": "HGNC:11411",
        "name": "cyclin dependent kinase like 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdkl5"
      },
      {
        "slug": "dmxl2",
        "symbol": "DMXL2",
        "hgnc": "HGNC:2938",
        "name": "Dmx like 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dmxl2"
      },
      {
        "slug": "gnao1",
        "symbol": "GNAO1",
        "hgnc": "HGNC:4389",
        "name": "G protein subunit alpha o1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnao1"
      },
      {
        "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": "grm7",
        "symbol": "GRM7",
        "hgnc": "HGNC:4599",
        "name": "glutamate metabotropic receptor 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grm7"
      },
      {
        "slug": "kcna1",
        "symbol": "KCNA1",
        "hgnc": "HGNC:6218",
        "name": "potassium voltage-gated channel subfamily A member 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kcna1"
      },
      {
        "slug": "kcnq2",
        "symbol": "KCNQ2",
        "hgnc": "HGNC:6296",
        "name": "potassium voltage-gated channel subfamily Q member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnq2"
      },
      {
        "slug": "lgi1",
        "symbol": "LGI1",
        "hgnc": "HGNC:6572",
        "name": "leucine rich glioma inactivated 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lgi1"
      },
      {
        "slug": "neurod2",
        "symbol": "NEUROD2",
        "hgnc": "HGNC:7763",
        "name": "neuronal differentiation 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/neurod2"
      },
      {
        "slug": "nfix",
        "symbol": "NFIX",
        "hgnc": "HGNC:7788",
        "name": "nuclear factor I X",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nfix"
      },
      {
        "slug": "pigp",
        "symbol": "PIGP",
        "hgnc": "HGNC:3046",
        "name": "phosphatidylinositol glycan anchor biosynthesis class P",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigp"
      },
      {
        "slug": "pigq",
        "symbol": "PIGQ",
        "hgnc": "HGNC:14135",
        "name": "phosphatidylinositol glycan anchor biosynthesis class Q",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigq"
      },
      {
        "slug": "pnkp",
        "symbol": "PNKP",
        "hgnc": "HGNC:9154",
        "name": "polynucleotide kinase 3'-phosphatase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnkp"
      },
      {
        "slug": "rhobtb2",
        "symbol": "RHOBTB2",
        "hgnc": "HGNC:18756",
        "name": "Rho related BTB domain containing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rhobtb2"
      },
      {
        "slug": "scn1b",
        "symbol": "SCN1B",
        "hgnc": "HGNC:10586",
        "name": "sodium voltage-gated channel beta subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn1b"
      },
      {
        "slug": "sik1",
        "symbol": "SIK1",
        "hgnc": "HGNC:11142",
        "name": "salt inducible kinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sik1"
      },
      {
        "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": "slc32a1",
        "symbol": "SLC32A1",
        "hgnc": "HGNC:11018",
        "name": "solute carrier family 32 member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc32a1"
      },
      {
        "slug": "trim8",
        "symbol": "TRIM8",
        "hgnc": "HGNC:15579",
        "name": "tripartite motif containing 8",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trim8"
      },
      {
        "slug": "atp1a2",
        "symbol": "ATP1A2",
        "hgnc": "HGNC:800",
        "name": "ATPase Na+/K+ transporting subunit alpha 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp1a2"
      },
      {
        "slug": "cacna1a",
        "symbol": "CACNA1A",
        "hgnc": "HGNC:1388",
        "name": "calcium voltage-gated channel subunit alpha1 A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1a"
      },
      {
        "slug": "otc",
        "symbol": "OTC",
        "hgnc": "HGNC:8512",
        "name": "ornithine transcarbamylase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/otc"
      },
      {
        "slug": "pdha1",
        "symbol": "PDHA1",
        "hgnc": "HGNC:8806",
        "name": "pyruvate dehydrogenase E1 subunit alpha 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdha1"
      },
      {
        "slug": "slc6a19",
        "symbol": "SLC6A19",
        "hgnc": "HGNC:27960",
        "name": "solute carrier family 6 member 19",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc6a19"
      }
    ]
  }
}