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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4671482/
https://www.ncbi.nlm.nih.gov/pubmed/26297560
http://dx.doi.org/10.1093/brain/awv243

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