This website provides information on patients with mutations in the BRAT1 gene, including clinical data, molecular data, management and research options.
BRAT1 related disorder is characterized by variable presentations and severity levels of epilepsy, cerebral/cerebellar atrophy, global developmental delay/intellectual disability, hypotonia, hypertonia, ataxia, and autonomic instability. Decreased survival occurs in some affected individuals.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the BRAT1 gene.
Siddharth Srivastava, MD, Boston Children’s Hospital, Boston, MA, USA, email@example.com
Sakkubai Naidu, MD, Kennedy Krieger Institute, Baltimore, MD, USA, firstname.lastname@example.org