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Genetics

Mutations in ATP1A3 are linked to alternating hemiplegia of childhood

Nature Reviews Neurology volume 8, page 534 (2012)Cite this article

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Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that involves early-onset bouts of hemiplegia and dystonia. Most cases are sporadic, but some studies have suggested a genetic component. Using whole-genome sequencing in three parent–proband trios, Rosewich et al. identified ATP1A3, which encodes a cation transport ATPase, as a disease-associated gene. The researchers tested their finding in a larger group of 21 individuals with AHC, and found that all patients harboured mutations in ATP1A3, including seven heterozygous de novo mutations.

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ORIGINAL RESEARCH PAPER

  1. Rosewich, H. et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. doi:10.1016/S1474-4422(12)70182-5

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Mutations in ATP1A3 are linked to alternating hemiplegia of childhood. Nat Rev Neurol 8, 534 (2012). https://doi.org/10.1038/nrneurol.2012.175

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