This website provides information on patients with mutations in the SLITRK3 gene, including clinical data, molecular data, management and research options.  

SLITRK3 encodes a transmembrane synaptic adhesion protein that plays a critical role in the development and maturation of inhibitory (GABAergic) synapses.  

Pathogenic variants in SLITRK3 have been associated with an emerging synaptopathy characterized by epileptic encephalopathy, global developmental delay, microcephaly, and other neurologic features.  

Not all individuals with SLITRK3 variants will manifest the same severity or full spectrum of features.

This website was created to share and collect information about clinical presentation, management, and research projects to gather more knowledge and provide better care for individuals with SLITRK3-associated disorders.

Stephanie Efthymiou, PhD, Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK, s.efthymiou@ucl.ac.uk

Henry Houlden, MD, PhD, Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK, h.houlden@ucl.ac.uk