Familial Focal Epilepsy with Variable Foci 3

Preferred Label : Familial Focal Epilepsy with Variable Foci 3;

NCIt synonyms : FFEVF3;

NCIt definition : An autosomal dominant familial form of epilepsy caused by mutation(s) in the NPRL3 gene, encoding GATOR1 complex protein NPRL3. It is characterized by focal seizures arising from different cortical regions, with some patients having structural brain abnormalities, including focal cortical dysplasia.;

Details

Origin ID

C217086;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NPRL3 Gene [NCIt concept]

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