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De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Published Web Location

http://europepmc.org/articles/PMC3442240?pdf=render
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Abstract

Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations. AHC is usually a sporadic disorder and has unknown etiology. We used exome sequ

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