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Article

Late diagnoses of Dravet syndrome: How many individuals are we missing?

Epilepsia open - 1 Dec 2021

Silvennoinen Katri, Puvirajasinghe Clinda, Hudgell Kirsty, Sidhu Meneka K, Martins Custodio Helena, Jones Wendy D, Balestrini Simona, Sisodiya Sanjay M

Abstract excerpt

We report new genetic diagnoses of Dravet syndrome in a group of adults with complex epilepsy of unknown cause, under follow-up at a tertiary epilepsy center. Individuals with epilepsy and other features of unknown cause from our unit underwent whole-genome sequencing through the 100 000 Genomes Project. Virtual gene panels were applied to frequency-filtered variants based on phenotype summary. Of 1078...

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Identifiers

PMID: 34268891
DOI: 10.1002/epi4.12525
PMCID: PMC8633473

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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