Developmental and Epileptic Encephalopathy 25 (DEE25)

Developmental and Epileptic Encephalopathy 25, also known as developmental and epileptic encephalopathy, 25, is related to developmental and epileptic encephalopathy 25 with amelogenesis imperfecta and kohlschutter-tonz syndrome, and has symptoms including ataxia, muscle spasticity and tonic seizures. An important gene associated with Developmental and Epileptic Encephalopathy 25 is SLC13A5 (Solute Carrier Family 13 Member 5), and among its related pathways/superpathways is Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Sodium citrate and Citric acid have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotype is skeleton.