The study expands the spectrum of genotype-phenotype correlations in Alternating Hemiplegia of Childhood, aiding in diagnosis and early medical intervention.
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May aid AHC2 diagnosis; extends ATP1A3 correlations but leaves practice change open.
Our results, demonstrate a highly variable clinical phenotype in patients with AHC2 that correlates with certain mutations and possibly clusters within the ATP1A3 gene. Our description of the clinical profile of patients with the most frequent mutations and the clinical picture of those with less common mutations confirms the results from previous studies, and further expands the spectrum of genotype-phenotype correlations. Our results may be useful to confirm diagnosis and may influence decisions to ensure appropriate early medical intervention in patients with AHC. They provide a stronger basis for the constitution of more homogeneous groups to be included in clinical trials.
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Panagiotakaki et al. (2015) studied this question.
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