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Article

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

1 Dec 2018

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 30526861
DOI: 10.1016/j.ajhg.2018.10.023

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Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic EpilepsiesPMID 30526861Read ↗

Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion.Semantic proximity Read ↗

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Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an <i>SCN1A</i> poison exon in epilepsySemantic proximity Read ↗

Heat-induced seizures, premature mortality, and hyperactivity in a novel <i>Scn1a</i> nonsense model for Dravet syndromeSemantic proximity Read ↗

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