{
  "abstract": "ATP1A2 (OMIM 182340) encodes the α2 subunit of Na+/K+-ATPase. Variation in this gene has been associated with a spectrum of clinical phenotypes, including familial hemiplegic migraine type 2 (FHM2), epilepsy and intellectual disability. A 22-year-old woman with intellectual disability, hemiplegic migraine and epilepsy presented with persistent decreased consciousness, unexplained by initial investigations. Two weeks later, repeat imaging showed new, marked cerebral oedema with no identified cause; this eventually resolved. A year later, she had a further milder episode. An epilepsy gene panel identified a likely pathogenic missense variant in the ATP1A2 gene (NM_000702.3: c.1027A>C, p.(Thr343Pro)). After starting memantine as a targeted treatment, her migraine and seizure frequency reduced. This case highlights the importance of early genetic testing in certain people with epilepsy to determine the cause and enable targeted therapeutic interventions.",
  "authors": [
    {
      "affiliations": [
        "Department of Neurology, University Hospital of Wales, Cardiff, UK",
        "The University of Sheffield Institute for Translational Neuroscience, Sheffield, England, UK"
      ],
      "name": "Sophie L Voase"
    },
    {
      "affiliations": [
        "All Wales Medical Genomics Service, Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, Wales, UK",
        "Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, Wales, UK"
      ],
      "name": "Andrew E Fry"
    },
    {
      "affiliations": [
        "The Welsh Epilepsy Unit, Department of Neurology, University Hospital of Wales, Cardiff, UK"
      ],
      "name": "Khalid Hamandi"
    }
  ],
  "title": "Prolonged coma and cerebral oedema in a patient with an ATP1A2 variant",
  "uid": "f712e1df-1d51-550a-a40d-649215f95a6a"
}