SLC6A1 epileptic encephalopathy

SLC6A1 epileptic encephalopathy is a genetic disorder defined by the loss of function of one of the two copies of the human SLC6A1 gene. It typically shows itself as seizures that begin early in life, and it can also involve a learning disability ranging from mild to severe. The source lead stresses that not every manifestation is present in any one patient, so the picture varies between individuals. The lead is brief and gives no prevalence, diagnostic criteria or treatment information, so none are stated here.