Article

Fine Mapping and Candidate Gene Analysis of Dravet Syndrome Modifier Loci on Mouse Chromosomes 7 and 8

2024-04-18

Abstract excerpt

<h4>ABSTRACT</h4> Dravet syndrome is a developmental and epileptic encephalopathy (DEE) characterized by intractable seizures, comorbidities related to developmental, cognitive, and motor delays, and a high mortality burden due to sudden unexpected death in epilepsy (SUDEP). Most Dravet syndrome cases are attributed to SCN1A haploinsufficiency, with genetic modifiers and environmental factors influencing disease...

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Literature Corpus work: f9aa5d58-5e8b-5681-9398-54ee4dc32597
DOI: 10.1101/2024.04.15.589561

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