benign familial infantile seizures 2

Term ID

DOID:0081115

Synonyms

Benign Familial Infantile Seizures, 2

Definition

A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the PRRT2 gene on chromosome 16p11. https://pubmed.ncbi.nlm.nih.gov/18479385/

References

MIM:605751

Ontology

Human Disease ( DOID:0081115 )

Relationships

is a type of: autosomal dominant disease benign familial infantile epilepsy

autosomal dominant disease benign familial infantile epilepsy Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models