SLC6A1 SPAIN

SPANISH ASSOCIATION OF PARENTS AND AFFECTED BY "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY DUE TO SLC6A1 MUTATION" Developmental and Epileptic Encephalopathy associated with the SLC6A1 gene (or simply SLC6A1) is a rare neurological disease of genetic origin. Diagnosed from childhood persist throughout the patient's life. Discovered in 2015, it is estimated to affect 1 in 38,000 people, with around 3,500 new cases annually worldwide. This disease can cause various disorders such as autism, various epilepsy syndromes, and intellectual disability. The phenotype of the disease includes absence seizures and mild to moderate intellectual disability. The common pattern on the Electroencephalogram (EEG) shows irregular spikes and waves. In simple terms, the disease involves a brain condition that affects the normal development of the child, causing epilepsy due to harmful electrical discharges, all linked to the specific gene SLC6A1.