{
  "abstract": "Biallelic KCNJ10 variants, encoding the Kir4.1 potassium channel, can cause cerebellar ataxia variably associated with intellectual disability, renal tubulopathy, sensorineural hearing loss and epilepsy (EAST or SeSAME syndrome, MIM:612780). 1,2 The predominant movement disorder, cerebellar ataxia, is typically non-progressive, though dystonic posturing occurs. 3 Genotype-phenotype correlations are poorly known. 1,3 Both monoallelic and biallelic KCNJ10 variants can cause paroxysmal kinesigenic dyskinesia (PKD), defined by brief dystonic or choreic attacks triggered by sudden movements, as a predominant manifestation. 4-6 Notably, paroxysmal features resembling PKD were retrospectively identified in one of three previously reported siblings carrying the homozygous p.(Ile60Thr) variant. 6,7 We report a patient with biallelic KCNJ10 variant presenting with PKD and progressive ataxia-spasticity.\n\nCase ReportA 33-year-old woman presented with PKD, progressive ataxiaspasticity syndrome, and dystonic postures. She had asymptomatic parents with no family history for neurological disorders (Supplementary Fig. S1).\n\nGeneralized tonic-clonic seizures at 10 months, treated with valproate, remitted after discontinuation at age 2 without recurrence. She exhibited developmental delay with independent ambulation at 30 months, and persistent coordination difficulties. At age 8, PKD episodes appeared, preceded by a sensory aura, with dystonic posturing of the upper limbs and neck, lasting 5-60 seconds, about three times daily. Episodes were typically",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 10,
  "authors": [
    {
      "name": "Clément Desjardins"
    },
    {
      "name": "Jiyoon Baik"
    },
    {
      "name": "Lorenzo Bresciani"
    },
    {
      "name": "Christelle Nilles"
    },
    {
      "name": "Cendrine Foucard"
    },
    {
      "name": "Mathieu Georget"
    },
    {
      "name": "Lina Daghsen"
    },
    {
      "name": "Bertrand Degos"
    },
    {
      "name": "Aurélie Méneret"
    },
    {
      "name": "Emmanuel Roze"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/8enwhdcjjnfww.bib",
  "cited_by": 0,
  "doi": "10.1002/mdc3.70801",
  "fulltext_url": null,
  "id": "8enwhdcjjnfww",
  "issns": [
    "2330-1619"
  ],
  "landing_url": "https://hal.sorbonne-universite.fr/hal-05737286v1",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "hal",
      "0.sdv"
    ],
    [
      "hal",
      "1.sdv.gen"
    ],
    [
      "hal",
      "2.sdv.gen.gh"
    ],
    [
      "openalex",
      "1312|Ion channel regulation and function"
    ]
  ],
  "openalex": "W7204279487",
  "pdf_url": "https://hal.sorbonne-universite.fr/hal-05737286/document",
  "pmcid": null,
  "pmid": null,
  "published": "2026-08-26",
  "publisher": "Wiley",
  "ris": "https://research.draconitic.com/paper/8enwhdcjjnfww.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:27Z",
      "native_id": "hal-05737286",
      "source": "hal",
      "url": "https://hal.sorbonne-universite.fr/hal-05737286v1"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "hal:1.sdv.gen",
      "subfield": "genetics-genomics"
    },
    {
      "field": "medicine",
      "origin": "hal:2.sdv.gen.gh",
      "subfield": "human-genetics"
    }
  ],
  "title": "Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia‐Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10",
  "title_text": "Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia‐Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:27Z",
  "url": "https://research.draconitic.com/paper/8enwhdcjjnfww",
  "venue": "Movement Disorders Clinical Practice",
  "versions": []
}