Article
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
The Lancet. Neurology - 1 Sept 2012
Rosewich Hendrik, Thiele Holger, Ohlenbusch Andreas, Maschke Ulrike, Altmüller Janine, Frommolt Peter, Zirn Birgit, Ebinger Friedrich, Siemes Hartmut, Nürnberg Peter, Brockmann Knut, Gärtner Jutta
Abstract excerpt
BACKGROUND: Alternating hemiplegia of childhood (AHC) is a rare neurological disorder characterised by early-onset episodes of hemiplegia, dystonia, various paroxysmal symptoms, and developmental impairment. Almost all cases of AHC are sporadic but AHC concordance in monozygotic twins and dominant transmission in a family with a milder phenotype have been reported. Thus, we aimed to identify de-novo mutations...
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