ZFIN Human Disease: benign familial infantile seizures 2

OBO ID: DOID:0081115

Term Name:	benign familial infantile seizures 2		Search Ontology:
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:	OMIM: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 benign familial infantile seizures 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PRRT2	prrt2	Seizures, benign familial infantile, 2	605751

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None