Article
BRAT1 mutations present with a spectrum of clinical severity.
American journal of medical genetics. Part A - 1 Sept 2016
Srivastava Siddharth, Olson Heather E, Cohen Julie S, Gubbels Cynthia S, Lincoln Sharyn, Davis Brigette Tippin, Shahmirzadi Layla, Gupta Siddharth, Picker Jonathan, Yu Timothy W, Miller David T, Soul Janet S, Poretti Andrea, Naidu SakkuBai
Abstract excerpt
Mutations in BRAT1, encoding BRCA1-associated ATM activator 1, are associated with a severe phenotype known as rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL; OMIM # 614498), characterized by intractable seizures, hypertonia, autonomic instability, and early death. We expand the phenotypic spectrum of BRAT1 related disorders by reporting on four individuals with various BRAT1 mutations resulting...
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