Journal article
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype
F Jaffer, A Avbersek, R Vavassori, C Fons, J Campistol, M Stagnaro, E De Grandis, E Veneselli, H Rosewich, M Gianotta, C Zucca, F Ragona, T Granata, N Nardocci, M Mikati, AR Helseth, C Boelman, BA Minassian, S Johns, SI Garry Show all
Brain | OXFORD UNIV PRESS | Published : 2015
DOI: 10.1093/brain/awv243
Abstract
Alternating hemiplegia of childhood is a rare disorder caused by de novo mutations in the ATP1A3 gene, expressed in neurons and cardiomyocytes. As affected individuals may survive into adulthood, we use the term 'alternating hemiplegia'. The disorder is characterized by early-onset, recurrent, often alternating, hemiplegic episodes; seizures and non-paroxysmal neurological features also occur. Dysautonomia may occur during hemiplegia or in isolation. Premature mortality can occur in this patient group and is not fully explained. Preventable cardiorespiratory arrest from underlying cardiac dysrhythmia may be a cause. We analysed ECG recordings of 52 patients with alternating hemiplegia from n..
View full abstractGrants
Awarded by UK Research and Innovation
Funding Acknowledgements
This work was partly undertaken at UCLH/UCL, which received a proportion of funding from the Department of Health's NIHR Biomedical Research Centres funding scheme. HH thanks the MRC (grant number MR/J004758/1) and Wellcome Trust (grant numbers WT093205MA and WT104033AIA) for grant support. MAK is a Wellcome Trust Intermediate Fellow and also funded by Great Ormond Street Children's Charity. The majority of the cohort data was based on the initial European web-based registries ENRAH (European Network for Research on Alternating Hemiplegia; grant number LSSM-CT-2005-516513) and nEUroped [European Network on Rare Paediatric Neurological Diseases; grant number 2007122 EU [EU Health programme)], funded by the sixth Framework Program of the European Commission between 2005 and 2007 and the Public Health Program 2007 (2008-2011), respectively. Additional funds were provided by national parent associations.