Journal article
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood - A study of 155 patients
E Panagiotakaki, E De Grandis, M Stagnaro, EL Heinzen, C Fons, S Sisodiya, B De Vries, C Goubau, S Weckhuysen, D Kemlink, I Scheffer, G Lesca, M Rabilloud, A Klich, A Ramirez-Camacho, A Ulate-Campos, J Campistol, M Giannotta, ML Moutard, D Doummar Show all
Orphanet Journal of Rare Diseases | Published : 2015
Abstract
Background: Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients with AHC, we set out to identify the spectrum of different mutations within the ATP1A3 gene and further establish any correlation with phenotype. Methods: Clinical data from an international cohort of 155 AHC patients (84 females, 71 males; between 3 months and 52 years) were gathered using a specifically formulated questionnaire and analysed relative to the mutational ATP1A3 gene data for each patient. Results: In total, 34 different ATP1A3 mutations were detected in 85 % (132/155) patients, seven of which wer..
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Funding Acknowledgements
The cohort was based on the initial European web-based registries ENRAH (European Network for Research on Alternating Hemiplegia) and nEUroped (European Network on Rare Paediatric Neurological Diseases), 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.