Developmental and Epileptic Encephalopathy 71 (DEE71)

Developmental and Epileptic Encephalopathy 71, also known as glutaminase deficiency with neonatal epileptic encephalopathy, is related to infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development. An important gene associated with Developmental and Epileptic Encephalopathy 71 is GLS (Glutaminase). Affiliated tissues include brain, and related phenotypes are seizure and hypotonia