Article
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Human mutation - 1 Jan 2022
Nuovo Sara, Baglioni Valentina, De Mori Roberta, Tardivo Silvia, Caputi Caterina, Ginevrino Monia, Micalizzi Alessia, Masuelli Laura, Federici Giulia, Casella Antonella, Lorefice Elisa, Anello Danila, Tolve Manuela, Farini Donatella, Bertini Enrico, Zanni Ginevra, Travaglini Lorena, Vasco Gessica, Sette Claudio, Carducci Carla, Valente Enza M, Leuzzi Vincenzo
Abstract excerpt
Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal to neurodevelopmental disorder, and cerebellar atrophy with or without seizures, without obvious genotype-phenotype associations. We describe two families at the mildest end of the spectrum, differing in clinical presentation despite a...
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