Journal article

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood Show all

PLOS ONE | PUBLIC LIBRARY SCIENCE | Published : 2015

Abstract

Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the neuronal Na+/K+ ATPase. Published studies to date indicate 2 recurrent mutations, D801N and E815K, and a more severe phenotype in the E815K cohort. We performed mutation analysis and retrospective genotype-phenotype correlations in all eligible patients with AHC enrolled in the US AHC Foundation registry from 1997-2012. Clinical data were abstracted from standardized caregivers' questionnaires and medical records and confirmed by expert clinicians. We identified ATP1A3 mutations by Sanger and whole genome sequencing, and compared phenotypes within and between 4 groups of subjects, those with D80..

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Grants

Awarded by National Institute of General Medical Sciences Center for Systems Biology


Awarded by NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES


Funding Acknowledgements

The Alternating Hemiplegia of Childhood Foundation (http://ahckids.org/). Funds were received by KJS. The association Genetique Actions (http://www.genetique-actions.fr/). Funds were received by LV. The University of Luxembourg-Institute for Systems Biology Strategic Partnership (http://www.partnerships.systemsbiology.net/517/). Funds were received by LH. The Luxembourg Centre for Systems Biomedicine (http://wwwfr.uni.lu/lcsb). Funds were received by LH. The National Institute of General Medical Sciences Center for Systems Biology (http://www.nigms.nih.gov/research/specificareas/sysbio/Pages/default.aspx) P50 GM076547. Funds were received by LH. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.