Developmental and Epileptic Encephalopathy 7 - CISMeF
Developmental and Epileptic Encephalopathy 7NCIt concept
Preferred Label : Developmental and Epileptic Encephalopathy 7;
NCIt synonyms : EIEE7; DEE7; Epileptic Encephalopathy, Early Infantile, 7;
NCIt definition : An autosomal dominant form of early infantile epileptic encephalopathy caused by mutation(s)
in the KCNQ2 gene, encoding potassium voltage-gated channel subfamily KQT member 2.;