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De novo mutations in epileptic encephalopathies

Published Web Location

http://europepmc.org/articles/PMC3773011?pdf=render
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Abstract

Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here we report a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms (n = 1

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