ZFIN Human Disease: benign familial infantile seizures 5

OBO ID: DOID:0081118

Term Name:	benign familial infantile seizures 5		Search Ontology:
Synonyms:	Benign Familial Infantile Seizures, 5
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 SCN8A gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/23086396/
References:	OMIM:617080
Ontology:	Human Disease ( DOID:0081118 )

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 5 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SCN8A	scn8aa scn8ab	Seizures, benign familial infantile, 5	617080

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None