Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

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...

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Published in:Brain
Main Authors: Jaffer, Fatima, Avbersek, Andreja, Vavassori, Rosaria, Fons, Carmen, Campistol, Jaume, Stagnaro, Michela, De Grandis, Elisa, Veneselli, Edvige, Rosewich, Hendrik, Gianotta, Melania, Zucca, Claudio, Ragona, Francesca, Granata, Tiziana, Nardocci, Nardo, Mikati, Mohamed, Helseth, Ashley R., Boelman, Cyrus, Minassian, Berge A., Johns, Sophia, Garry, Sarah I., Scheffer, Ingrid E., Gourfinkel-An, Isabelle, Carrilho, Ines, Aylett, Sarah E., Parton, Matthew, Hanna, Michael G., Houlden, Henry, Neville, Brian, Kurian, Manju A., Novy, Jan, Sander, Josemir W., Lambiase, Pier D., Behr, Elijah R., Schyns, Tsveta, Arzimanoglou, Alexis, Cross, J. Helen, Kaski, Juan P., Sisodiya, Sanjay M.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4671482/
https://ncbi.nlm.nih.gov/pubmed/26297560
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awv243
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