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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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Dades bibliogràfiques
Publicat a:Epilepsia Open
Autors principals: Jeffrey, Jennifer S., Leathem, Janet, King, Chontelle, Mefford, Heather C., Ross, Kirsty, Sadleir, Lynette G.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2021
Matèries:
Accés en línia: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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