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Article

Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature.

European journal of medical genetics - 1 Jan 2022

Troisi Serena, Maitz Silvia, Severino Mariasavina, Spano Alice, Cappuccio Gerarda, Brunetti-Pierri Nicola, Torella Annalaura, Nigro Vincenzo, Tudp, Bilo Leonilda, Coppola Antonietta

Abstract excerpt

Pathogenic variants in KAT6A, encoding a histone acetyltransferase, have been identified as a cause of a developmental disorder with a definite clinical spectrum including intellectual disability, speech delay, dysmorphic facial features, microcephaly, cardiac and gastrointestinal defects. Seizures have been described in a minority of patients without a detailed characterization. In this work we focus on epilepsy...

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PMID: 34748993
DOI: 10.1016/j.ejmg.2021.104380

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