" /> Developmental and Epileptic Encephalopathy 47 - CISMeF





Preferred Label : Developmental and Epileptic Encephalopathy 47;

NCIt synonyms : Epileptic Encephalopathy, Early Infantile, 47; EIEE47; DEE47;

NCIt definition : An autosomal dominant subtype of developmental and epileptic encephalopathy, caused by mutation(s) in the FGF12 gene, encoding fibroblast growth factor 12.;

NCI Metathesaurus CUI : CL602193;

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31/07/2025


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