Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
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DOI: 10.1038/ejhg.2017.61
Abstract: The classic epileptic encephalopathies, including infantile spasms (IS) and Lennox–Gastaut syndrome (LGS), are severe seizure disorders that usually arise sporadically. De novo variants in genes mainly encoding ion channel and synaptic proteins have been found… read more here.
Keywords: epileptic encephalopathy; variant transmission; transmission; transmission disequilibrium ... See more keywords