Article
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Orphanet journal of rare diseases - 26 Sept 2015
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
Abstract excerpt
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 any correlation with phenotype. METHODS: Clinical data from an international cohort of 155 AHC patients (84 females,...
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