Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients

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 an...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Panagiotakaki, Eleni, De Grandis, Elisa, Stagnaro, Michela, Heinzen, Erin L., Fons, Carmen, Sisodiya, Sanjay, de Vries, Boukje, Goubau, Christophe, Weckhuysen, Sarah, Kemlink, David, Scheffer, Ingrid, Lesca, Gaëtan, Rabilloud, Muriel, Klich, Amna, Ramirez-Camacho, Alia, Ulate-Campos, Adriana, Campistol, Jaume, Giannotta, Melania, Moutard, Marie-Laure, Doummar, Diane, Hubsch-Bonneaud, Cecile, Jaffer, Fatima, Cross, Helen, Gurrieri, Fiorella, Tiziano, Danilo, Nevsimalova, Sona, Nicole, Sophie, Neville, Brian, van den Maagdenberg, Arn M. J. M., Mikati, Mohamad, Goldstein, David B., Vavassori, Rosaria, Arzimanoglou, Alexis
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4583741/
https://ncbi.nlm.nih.gov/pubmed/26410222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0335-5
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