" /> Developmental and Epileptic Encephalopathy 42 - CISMeF





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.;

NCI Metathesaurus CUI : CL602142;

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03/05/2025


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