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Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
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Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
1 articles
Newest firstDravet syndrome (DS) is a severe infantile-onset developmental and epileptic encephalopathy characterised by frequent drug-resistant seizures, cognitive and motor impairment, and an elevated risk of premature mortality, particularly from sudden unexpected death in epilepsy (SUDEP). Over 95% of cases are caused by loss-of-function pathogenic variants in SCN1A, the gene encoding the voltage-gated sodium channel alph…
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