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Article

PPP3CA gene-related developmental and epileptic encephalopathy: Expanding the electro-clinical phenotype.

Seizure - 1 Oct 2024

Favaro Jacopo, Iodice Alessandro, Nosadini Margherita, Asta Francesca, Toldo Irene, Ancona Claudio, Cavaliere Elena, Pelizza Maria Federica, Casara Gianluca, Parmeggiani Lucio, Sartori Stefano

Abstract excerpt

PURPOSE: The objective of this study is to characterize the electro-clinical phenotype of individuals affected by the rare PPP3CA gene-related developmental and epileptic encephalopathy (DEE). METHODS: We provide a detailed electro-clinical description of four previously unreported subjects, with unremarkable structural brain MRI and a normal screening for inborn errors of metabolism, who carry pathogenic...

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PMID: 39305655
DOI: 10.1016/j.seizure.2024.08.017

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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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