This website provides information on patients with mutations in the SLC7A3 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the SLC7A3 gene is a X-linked recessive (XLR) multisystem disorder characterized by developmental delay (language and psychomotor development) and/or autism spectrum disorder (ASD). Seizures can be present in most cases (clonic, tonic, generalized tonic-clonic and/or atypical absences), which can become drug-resistant. EEG can show epileptiform activities and brain MRI is usually normal. Since it is an XLR disorder, females can be healthy carriers and males can be affected.

Not all individuals with a mutation in the SLC7A3 gene have these features.

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 SLC7A3 gene.

Jo Sourbron, MD, PhD, MPharm, Section Pediatric Neurology, Department of Development and Regeneration, University Hospital KU Leuven, Leuven, Belgium, Centre for Medical Genetics, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium, j.sourbron@gmail.com

Lieven Lagae, MD, PhD, Section Pediatric Neurology, Department of Development and Regeneration, University Hospital KU Leuven, Leuven, Belgium, lieven.lagae@uzleuven.be