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Article

MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy.

Epileptic disorders : international epilepsy journal with videotape - 1 Dec 2023

Boeri Silvia, Scala Marcello, Madia Francesca, Perucco Francesca, Vozzi Diego, Capra Valeria, Zara Federico, Nobili Lino, Mancardi Maria Margherita

Abstract excerpt

The MYT1L gene plays a critical role in brain development, promoting the differentiation and proliferation of cells, important for the formation of brain connections. MYT1L is also involved in regulating the development of the hypothalamus, which is a crucial actor in weight regulation. Genetic variants in the MYT1L are associated with a range of developmental disorders, including intellectual disability, autism...

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PMID: 37518898
DOI: 10.1002/epd2.20141

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