Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients
Abstrakt
Our study shows, based on a very extensive multinational cohort, that the phenotypic variation observed in AHC patients is mirrored in the heterogeneity of mutations affecting the ATP1A3 gene. We have described the clinical profiles of patients harbouring the three most frequent mutations (p.Glu815Lys, p.Asp801Asn and p.Gly947Arg) and reported extensive clinical information for patients with less common mutations, by considering the different mutations within specific clusters.
Our results support the notion that, although it is clear that the alpha3 subunit is implicated in the pathogenesis of AHC, the presence of individual variability in patients with the same mutation implies that other modifier genes or epigenetic factors play a role and this should be investigated in future studies.