Familial Focal Epilepsy with Variable Foci 2

Preferred Label : Familial Focal Epilepsy with Variable Foci 2;

NCIt synonyms : FFEVF2;

NCIt definition : An autosomal dominant familial form of epilepsy caused by mutation(s) in the NPRL2 gene, encoding GATOR1 complex protein NPRL2.;

NCI Metathesaurus CUI : CL602155;

Details

Origin ID

C206114;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NPRL2 Gene [NCIt concept]

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