familial focal epilepsy with variable foci 4

Term ID

DOID:0081424

Synonyms

Definition

A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. https://pubmed.ncbi.nlm.nih.gov/28235671/

References

• OMIM:617935

Ontology

Human Disease   ( DOID:0081424 )