Asystole in alternating hemiplegia with de novo ATP1A3 mutation.

Details

Serval ID
serval:BIB_548079736F1D
Type
Article: article from journal or magazin.
Collection
Publications
Title
Asystole in alternating hemiplegia with de novo ATP1A3 mutation.
Journal
European Journal of Medical Genetics
Author(s)
Novy J., McWilliams E., Sisodiya S.M.
ISSN
1878-0849 (Electronic)
ISSN-L
1769-7212
Publication state
Published
Issued date
2014
Peer-reviewed
Oui
Volume
57
Number
1
Pages
37-39
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't Publication Status: ppublish
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.
Keywords
DNA Mutational Analysis, Female, Heart Arrest/diagnosis, Heart Arrest/genetics, Hemiplegia/diagnosis, Hemiplegia/genetics, Humans, Mutation, Missense, Sodium-Potassium-Exchanging ATPase/genetics, Young Adult
Pubmed
Web of science
Create date
05/06/2015 8:53
Last modification date
20/08/2019 14:09
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