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Article

A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly.

International journal of molecular sciences - 6 Sept 2024

Foti Miryam Rosa Stella, Tedesco Maria Giovanna, Colavito Davide, Rogaia Daniela, Mencarelli Amedea, Schippa Monica, Gradassi Cristina, Romani Rita, Ardisia Carmela, Prontera Paolo

Abstract excerpt

The etiology of neurodevelopmental disorders and epilepsy is very heterogeneous and partly still unknown, and the research of causative genes related to these diseases is still in progress. In 2020, pathogenic variants of the TET3 gene were associated with Beck-Fahrner syndrome, which is characterized by neurodevelopmental delay, intellectual and learning disabilities of variable degree, growth abnormalities,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39273623
DOI: 10.3390/ijms25179676
PMCID: PMC11395583

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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