Clinical features
BRAT1 related disorder is a neurodevelopmental disorder associated with varying presentations and severity levels of epilepsy (seizure disorder), atrophy (decreased volume) of the brain, global developmental delay/intellectual disability, increased tone, ataxia (motor incoordination), and changes in heart range and breathing. In the severe form of the disorder, there can be early death in the first few months of life.
Prevalence
The exact prevalence of BRAT1 related disorder is not known, but it is considered to be a rare disorder. There are more and more individuals who receive this diagnosis due to advanced genetic technologies, like exome sequencing.
Inheritance
BRAT1 related disorder is caused by misspellings in the gene BRAT1. The disorder results from two defective copies of the gene. In some cases, an individual may inherit a defective copy from one or both parents. If both parents are a carrier for the disorder, there is a 25% chance of having another child who is affected.