Developmental and Epileptic Encephalopathy 1 - CISMeF
Developmental and Epileptic Encephalopathy 1NCIt concept
Preferred Label : Developmental and Epileptic Encephalopathy 1;
NCIt synonyms : EIEE1; DEE1; Early Infantile Epileptic Encephalopathy 1;
NCIt definition : An autosomal recessive form of early infantile epileptic encephalopathy, caused by
mutation(s) in the ARX gene, encoding homeobox protein ARX.;