This website provides information on patients with mutations in the SLC6A1 gene, including clinical data, molecular data, management and research options.

SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD), caused by pathogenic SLC6A1 variants, is characterized by mild-to-severe developmental delay and/or intellectual disability, hypotonia, epilepsy, movement disorders, and neurobehavioral and/or psychiatric manifestations. Language skills, particularly expressive language, are often more significantly affected than motor development.

Not all individuals with a variant in the SLC6A1 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 variants in the SLC6A1 gene.

Katrine M Johannesen, MD, PhD, Department of Genetics, University Hospital of Copenhagen, Copenhagen, Denmark and Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Copenhagen, Denmark, Katrine.marie.johannesen@regionh.dk