BRAT1 related disorder is characterized by variable presentations and severity levels of epilepsy, cerebral and/or cerebellar atrophy, global developmental delay/intellectual disability, hypotonia, hypertonia, ataxia, and autonomic instability. Decreased survival occurs in some affected individuals.
The exact prevalence of BRAT1 related disorder is not known, but it is considered to be a rare disorder. There is an increasing number of diagnoses with use of exome sequencing for epilepsy and/or global developmental delay/intellectual disability.
BRAT1 related disorder is caused by biallelic pathogenic variants in BRAT1. This condition is inherited in an autosomal recessive manner. Cases reported to date have been due tohomozygous and compound heterozygous pathogenic variants. As with other autosomal recessive conditions, the recurrence risk is 25% if both parents are carriers.