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Article

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

Epilepsia open - 1 Mar 2021

Jeffrey Jennifer S, Leathem Janet, King Chontelle, Mefford Heather C, Ross Kirsty, Sadleir Lynette G

Abstract excerpt

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 receiving a genetic diagnosis for families. Methods: Semi-structured interviews were conducted with fifteen families...

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Identifiers

PMID: 33681658
DOI: 10.1002/epi4.12458
PMCID: PMC7918330

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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