Medicina clinica · 2014
[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].
СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод пока не подготовлен
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Ulate-Campos Adriana, Fons Carmen, Campistol Jaume, Martorell Loreto, Cancho-Candela Ramón, Eiris Jesús, López-Laso Eduardo, Pineda Mercedes, Sans Anna, Velázquez Ramón
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentAdultAge of OnsetChildChild, PreschoolDNA Mutational AnalysisDiet, KetogenicDystonic DisordersExcitatory Amino Acid Transporter 2FemaleGlutamate Plasma Membrane Transport ProteinsHemiplegiaHeterozygoteHumansMaleMutation, MissenseOcular Motility DisordersPoint MutationRetrospective StudiesSodium-Potassium-Exchanging ATPaseSpainYoung Adult