ZFIN Human Disease: developmental and epileptic encephalopathy 57

OBO ID: DOID:0080284

Term Name:	developmental and epileptic encephalopathy 57		Search Ontology:
Synonyms:	DEE57 early infantile epileptic encephalopathy 57
Definition:	A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31. (3)
References:	OMIM:617771
Ontology:	Human Disease ( DOID:0080284 )

Relationships

is a type of:	autosomal dominant disease developmental and epileptic encephalopathy autosomal dominant disease developmental and epileptic encephalopathy Show first 5 Terms

OTHER developmental and epileptic encephalopathy 57 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KCNT2	kcnt2b kcnt2a	Developmental and epileptic encephalopathy 57	617771

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None