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Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2024

Sedlackova Lucie, Sterbova Katalin, Vlckova Marketa, Seeman Pavel, Zarubova Jana, Marusic Petr, Krsek Pavel, Krijtova Hana, Musilova Alena, Lassuthova Petra

Abstract excerpt

OBJECTIVE: Developmental and epileptic encephalopathies (DEEs) are a group of severe, early-onset epilepsies characterised by refractory seizures, developmental delay, or regression and generally poor prognosis. DEE are now known to have an identifiable molecular genetic basis and are usually examined using a gene panel. However, for many patients, the genetic cause has still not been identified. The aims of this...

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PMID: 38008000
DOI: 10.1016/j.ejpn.2023.10.006

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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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