Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature
Serena Troisi, Silvia Maitz, Mariasavina Severino, Alice Spano, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Annalaura Torella, Vincenzo Nigro, Tudp, Leonilda Bilo, Antonietta Coppola
Topics & Concepts
EpilepsyMicrocephalyPhenotypeIntellectual disabilityGeneticsMedicineBioinformaticsPediatricsBiologyPsychiatryGeneGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases