Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients

作者：Ulate Campos Adriana^*; Fons Carmen; Campistol Jaume; Martorell Loreto; Cancho Candela Ramon; Eiris Jesus; Lopez Laso Eduardo; Pineda Mercedes; Sans Anna; Velazquez Ramon

来源：Medicina Clinica, 2014, 143(1): 25-28.

DOI：10.1016/j.medcli.2014.01.036

• Alternating hemiplegia of childhood
• ATP1A3 gen
• Sodium-potassium adenosine
• triphosphatase pump

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. %26lt;br%26gt;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. %26lt;br%26gt;Results: Six heterozygous, de nova 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). %26lt;br%26gt;Conclusions: In the studied population with AHC, de nova mutations were detected in 100% of patients. The most frequent mutations were D801N y la E815K, as reported in other series.

• 出版日期2014-7-7