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

Research output: Contribution to journalArticle

76 Citations (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.
Original languageEnglish
Pages (from-to)123-123
Number of pages1
JournalOrphanet Journal of Rare Diseases
Volume10
DOIs
Publication statusPublished - 2015

Keywords

  • inglese

Fingerprint Dive into the research topics of 'Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients'. Together they form a unique fingerprint.

Cite this