Developmental and Epileptic Encephalopathy 42 - CISMeF
Developmental and Epileptic Encephalopathy 42NCIt concept
Preferred Label : Developmental and Epileptic Encephalopathy 42;
NCIt synonyms : Epileptic Encephalopathy, Early Infantile, 42; EIEE42; DEE42;
NCIt definition : An autosomal dominant subtype of developmental and epileptic encephalopathy caused
by mutation(s) in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel
subunit alpha-1A.;