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

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

Abstract 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 Ge...

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Bibliographic Details
Main Authors: Katri Silvennoinen, Clinda Puvirajasinghe, Kirsty Hudgell, Meneka K. Sidhu, Helena Martins Custodio, Genomics England Research Consortium, Wendy D. Jones, Simona Balestrini, Sanjay M. Sisodiya
Format: Article
Language:English
Published: Wiley 2021-12-01
Series:Epilepsia Open
Subjects:
epilepsy
genetics
seizures
whole‐genome sequencing
Online Access:https://doi.org/10.1002/epi4.12525

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