Article
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
Brain : a journal of neurology - 1 Oct 2015
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
Abstract excerpt
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...
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