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Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks <i>de novo</i> variants linked to Dravet syndrome in novel <i>SCN1A</i> exons

2019-05-30

Abstract excerpt

The early infantile epileptic encephalopathies (EIEE) are a group of rare, severe neurodevelopmental disorders, where even the most thorough sequencing studies leave 60-65% of patients without a molecular diagnosis. Here, we explore the incompleteness of transcript models used for exome and genome analysis as one potential explanation for lack of current diagnoses. Therefore, we have updated the GENCODE gene annot...

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Literature Corpus work
6398ea3c-5fc3-5ef2-985e-7dee8fdd711e
DOI
10.1101/648576
Open publication

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Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks <i>de novo</i> variants linked to Dravet syndrome in novel <i>SCN1A</i> exonsDOI 10.1101/648576
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