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Article

Electroclinical Features in Two Novel STRADA Patients and a Functional Yeast Assay for the Validation of Missense STRADA Mutations.

Pediatric neurology - 1 Nov 2023

Ancora Caterina, Marchi Marco, Bonardi Claudia Maria, Sartori Geppo, Lopreiato Raffaele, Zuccarello Daniela, D'Errico Ignazio, Nosadini Margherita, Sartori Stefano, Boniver Clementina, Toldo Irene, Salviati Leonardo

Abstract excerpt

Loss of function of the STRADA gene, an upstream mTOR inhibitor, causes a rare neurodevelopmental disorder characterized by polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE syndrome). Patients display a homogeneous phenotype including early-onset drug-resistant epilepsy, severe psychomotor delay, multisystemic comorbidities, and increased risk of premature death. The administration of sirolimus, an...

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Source

Identifiers

PMID: 37722301
DOI: 10.1016/j.pediatrneurol.2023.08.018

Genes

STRADA

Provenance

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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