Developmental and Epileptic Encephalopathy 45 (DEE45)

Developmental and Epileptic Encephalopathy 45, also known as epileptic encephalopathy, early infantile, 45, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and developmental and epileptic encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 45 is GABRB1 (Gamma-Aminobutyric Acid Type A Receptor Subunit Beta1). Affiliated tissues include brain, and related phenotypes are seizure and ataxia