Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

The Lancet Neurology, 08/17/2012

Mutation analysis of the ATP1A3 gene in patients who met clinical criteria for alternating hemiplegia of childhood (AHC) allows for definite genetic diagnosis and sound genetic counselling. AHC and rapid–onset dystonia–parkinsonism are allelic diseases related to mutations in ATP1A3 and form a phenotypical continuum of a dystonic movement disorder.

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