Developmental and Epileptic Encephalopathy 11 (DEE11)

Developmental and Epileptic Encephalopathy 11, also known as epileptic encephalopathy, early infantile, 11, is related to arthrogryposis, distal, type 1a and retinitis pigmentosa 42. An important gene associated with Developmental and Epileptic Encephalopathy 11 is SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2), and among its related pathways/superpathways is Interleukin-6 family signaling. Affiliated tissues include brain and eye, and related phenotypes are intellectual disability, severe and autism