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

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 Pro...

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Detalles Bibliográficos
Autores principales: Silvennoinen, Katri, Puvirajasinghe, Clinda, Hudgell, Kirsty, Sidhu, Meneka K., Martins Custodio, Helena, Jones, Wendy D., Balestrini, Simona, Sisodiya, Sanjay M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Short Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633473/
https://www.ncbi.nlm.nih.gov/pubmed/34268891
http://dx.doi.org/10.1002/epi4.12525

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633473/
https://www.ncbi.nlm.nih.gov/pubmed/34268891
http://dx.doi.org/10.1002/epi4.12525

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