title: Asystole in alternating hemiplegia with de novo ATP1A3 mutation.
abstract: Alternating hemiplegia is a rare condition presenting with episodes of hemiplegia, epileptic seizures and, at times, dysautonomic attacks. De novo ATP1A3 (Na(+)/K(+) ATPase subunit) mutations were recently found to be the most common cause. We report a patient with alternating hemiplegia with de novo ATP1A3 mutation who experienced new-onset episodes of collapse in early adulthood unrelated to seizures. An implantable cardiac loop recorder documented episodes of asystole up to 5 s long. Subsequently a permanent pacemaker was implanted. ATP1A3 heart expression may be the explanation for the association of alternating hemiplegia and asystole episodes. Alternating hemiplegia has been associated with an increased risk of sudden death and lethal cardiac arrhythmias may be causative. Patients may need referral for appropriate cardiac investigations, especially if there is a change in symptoms. This case highlights the importance of clinical vigilance in patients with alternating hemiplegia.
authors.affiliation: NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Epilepsy Society, Chalfont St Peter SL9 0RJ, UK.
authors.forename: Jan
authors.initials: J
authors.lastname: Novy
authors.affiliation: Cardiology Department, Conquest Hospital, St Leonard-on-Sea, East Sussex, UK.
authors.forename: Eric
authors.initials: E
authors.lastname: McWilliams
authors.affiliation: NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Epilepsy Society, Chalfont St Peter SL9 0RJ, UK. Electronic address: s.sisodiya@ucl.ac.uk.
authors.forename: Sanjay M
authors.initials: SM
authors.lastname: Sisodiya
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D006323:Heart Arrest / Q000175:diagnosis* / Q000235:genetics; D006429:Hemiplegia / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*; D055815:Young Adult
chemical_list: C488756:ATP1A3 protein, human; D000254:Sodium-Potassium-Exchanging ATPase
keywords: Arrhythmia; Mortality; Rapid onset dystonia–parkinsonism; Seizures