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Article

A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene.

Seizure - 1 Mar 2024

Zanotta Nicoletta, Panzeri Elena, Minghetti Sara, Citterio Andrea, Giorda Roberto, Marelli Susan, Bassi Maria Teresa, Zucca Claudio

Abstract excerpt

BACKGROUND: Membrane Protein Palmitoylated 5 (MPP5) is a highly conserved apical complex protein, essential for cell polarity. Defects in neuronal cell polarity are associated with neurologic disorders. Only three patients with heterozygous MPP5 de novo variants have been reported so far, with global developmental delay, behavioral changes and in only one case epileptic seizures. OBJECTIVE: To describe a new...

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Identifiers

PMID: 36710240
DOI: 10.1016/j.seizure.2023.01.015

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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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