• Adriana Ulate-Campos, Carmen Fons, Jaume Campistol, Loreto Martorell, Ramón Cancho-Candela, Jesús Eiris, Eduardo López-Laso, Mercedes Pineda, Anna Sans, and Ramón Velázquez.
• Servicio de Neurología Pediátrica, Hospital Universitario Sant Joan de Déu, Barcelona, España. Electronic address: adrianaulate@hotmail.com.
• Med Clin Barcelona. 2014 Jul 7;143(1):25-8.

Background And ObjectiveAlternating hemiplegia in childhood (AHC) is a disease characterized by recurrent episodes of hemiplegia, tonic or dystonic crisis and abnormal ocular movements. Recently, mutations in the ATP1A3 gene have been identified as the causal mechanism of AHC. The objective is to describe a series of 16 patients with clinical and genetic diagnosis of AHC.Patients And MethodIt is a descriptive, retrospective, multicenter study of 16 patients with clinical diagnosis of AHC in whom mutations in ATP1A3 were identified.ResultsSix heterozygous, de novo mutations were found in the ATP1A3 gene. The most frequent mutation was G2401A in 8 patients (50%) followed by G2443A in 3 patients (18.75%), G2893A in 2 patients (12.50%) and C2781G, G2893C and C2411T in one patient, respectively (6.25% each).ConclusionsIn the studied population with AHC, de novo mutations were detected in 100% of patients. The most frequent mutations were D801N y la E815K, as reported in other series.Copyright © 2013 Elsevier España, S.L. All rights reserved.

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