Alternating hemiplegia of childhood is rare and usually results from mutations in cardiac- and brain-expressed ATP1A3. In an ECG study of 52 cases, Jaffer et al. reveal dynamic cardiac repolarisation or conduction abnormalities in over 50%. Abnormalities are more common in those ≥16 years, and suggest impaired cardiac repolarisation reserve.
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype
F. Jaffer,Andreja Avbersek,R. Vavassori,C. Fons,J. Campistol,M. Stagnaro,Elisa De Grandis,E. Veneselli,H. Rosewich,Melania Gianotta,C. Zucca,F. Ragona,T. Granata,N. Nardocci,M. Mikati,A. Helseth,Cyrus Boelman,B. Minassian,Sophia Johns,Sarah I Garry,I. Scheffer,I. Gourfinkel‐An,I. Carrilho,S. Aylett,M. Parton,M. Hanna,H. Houlden,B. Neville,M. Kurian,J. Novy,Josemir W Sander,P. Lambiase,E. Behr,Tsveta Schyns,A. Arzimanoglou,J. Cross,J. Kaski,S. Sisodiya
Published 2015 in Brain : a journal of neurology
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- Publication year
2015
- Venue
Brain : a journal of neurology
- Publication date
2015-08-21
- Fields of study
Medicine
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Semantic Scholar, PubMed
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