This website provides information on patients with mutations in the SLC6A9 gene (also known as GLYT1), including clinical data, molecular data, management and research options.
Biallelic mutations in the SLC6A9 gene cause GLYT1 encephalopathy (OMIM #617301), a multisystem disorder characterized by neonatal hypotonia, respiratory failure, encephalopathy, myoclonic jerks, dysmorphic features, and musculoskeletal anomalies. Additional features have also been described in some patients.
To date, only ten affected individuals from five unrelated families have been reported in the literature.
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 SLC6A9 gene.
Irene Mademont-Soler, Geneticist, PhD, Genetics Department, Hospital Universitari Dr Josep Trueta, Girona, Spain, firstname.lastname@example.org
Dolors Casellas-Vidal, Pediatric neurologist, MD, Department of Neuropediatrics, Hospital Universitari Dr Josep Trueta, Girona, Spain, email@example.com