Developmental and Epileptic Encephalopathy 5 (DEE5)

Developmental and Epileptic Encephalopathy 5, also known as epileptic encephalopathy, early infantile, 5, is related to developmental delay with or without epilepsy and autosomal dominant wolfram syndrome. An important gene associated with Developmental and Epileptic Encephalopathy 5 is SPTAN1 (Spectrin Alpha, Non-Erythrocytic 1), and among its related pathways/superpathways are Nervous system development and RAF/MAP kinase cascade. Affiliated tissues include brain, and related phenotypes are seizure and microcephaly