[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].

Abstract

BACKGROUND AND OBJECTIVE:

Alternating 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 METHOD:

It is a descriptive, retrospective, multicenter study of 16 patients with clinical diagnosis of AHC in whom mutations in ATP1A3 were identified.

RESULTS:

Six 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).

CONCLUSIONS:

In 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.

• Authors: Adriana Ulate-Campos, Carmen Fons, Jaume Campistol, Loreto Martorell, Ramón Cancho-Candela, Jesús Eiris, Eduardo López-Laso, Mercedes Pineda, Anna Sans, Ramón Velázquez
• Journal: Medicina clinica (Med Clin (Barc)) Vol. 143 Issue 1 Pg. 25-8 (Jul 07 2014) ISSN: 1578-8989 [Electronic] Spain
• Vernacular Title: Hemiplejía alternante de la infancia: estudio del gen ATP1A3 en 16 pacientes.
• PMID: 24768197 (Publication Type: Journal Article, Multicenter Study)
• Copyright: Copyright © 2013 Elsevier España, S.L. All rights reserved.

Chemical References

• ATP1A3 protein, human
• Excitatory Amino Acid Transporter 2
• Glutamate Plasma Membrane Transport Proteins
• SLC1A2 protein, human
• Sodium-Potassium-Exchanging ATPase

Topics

• Adolescent
• Adult
• Age of Onset
• Child
• Child, Preschool
• DNA Mutational Analysis
• Diet, Ketogenic
• Dystonic Disorders (diet therapy, genetics)
• Excitatory Amino Acid Transporter 2
• Female
• Glutamate Plasma Membrane Transport Proteins (genetics)
• Hemiplegia (diet therapy, genetics)
• Heterozygote
• Humans
• Male
• Mutation, Missense
• Ocular Motility Disorders (diet therapy, genetics)
• Point Mutation
• Retrospective Studies
• Sodium-Potassium-Exchanging ATPase (genetics, physiology)
• Spain
• Young Adult