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

Francesco Danilo Tiziano, Fiorella Gurrieri, Eleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro, Erin L. Heinzen, Carmen Fons, Sanjay Sisodiya, Boukje De Vries, Christophe Goubau, Sarah Weckhuysen, David Kemlink, Ingrid Scheffer, Gaëtan Lesca, Muriel Rabilloud, Amna Klich, Alia Ramirez-Camacho, Adriana Ulate-Campos, Jaume Campistol, Melania GiannottaMarie-Laure Moutard, Diane Doummar, Cecile Hubsch-Bonneaud, Fatima Jaffer, Helen Cross, Sona Nevsimalova, Sophie Nicole, Brian Neville, Arn M. J. M. Van Den Maagdenberg, Mohamad Mikati, David B. Goldstein, Rosaria Vavassori, Alexis Arzimanoglou

Risultato della ricerca: Contributo in rivistaArticolo in rivista

74 Citazioni (Scopus)

Abstract

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 any correlation with phenotype.
Lingua originaleEnglish
pagine (da-a)123-123
Numero di pagine1
RivistaOrphanet Journal of Rare Diseases
Volume10
DOI
Stato di pubblicazionePubblicato - 2015

Keywords

  • inglese

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