Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families

OBJECTIVES: Identifying genetic pathogenic variants improves clinical outcomes for children with developmental and epileptic encephalopathy (DEE) by directing therapy and enabling accurate reproductive and prognostic information for families. We aimed to explore the additional personal utility of re...

Descripción completa

Detalles Bibliográficos
Autores principales: Jeffrey, Jennifer S., Leathem, Janet, King, Chontelle, Mefford, Heather C., Ross, Kirsty, Sadleir, Lynette G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Full‐length Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918330/
https://www.ncbi.nlm.nih.gov/pubmed/33681658
http://dx.doi.org/10.1002/epi4.12458

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918330/
https://www.ncbi.nlm.nih.gov/pubmed/33681658
http://dx.doi.org/10.1002/epi4.12458

Ejemplares similares