familial focal epilepsy with variable foci 1

Term ID

DOID:0081421

Synonyms

Definition

A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12. https://pubmed.ncbi.nlm.nih.gov/32848577/

References

• OMIM:604364

Ontology

Human Disease   ( DOID:0081421 )