Developmental and Epileptic Encephalopathy 42 (DEE42)

Developmental and Epileptic Encephalopathy 42, also known as dee42, is related to early infantile epileptic encephalopathy and familial periodic paralysis. An important gene associated with Developmental and Epileptic Encephalopathy 42 is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A), and among its related pathways/superpathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Affiliated tissues include eye and cortex, and related phenotypes are intellectual disability and global developmental delay