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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...

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Detalles Bibliográficos
Publicado en:Epilepsia Open
Main Authors: Jeffrey, Jennifer S., Leathem, Janet, King, Chontelle, Mefford, Heather C., Ross, Kirsty, Sadleir, Lynette G.
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2021
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7918330/
https://ncbi.nlm.nih.gov/pubmed/33681658
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/epi4.12458
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