ZFIN Human Disease: developmental and epileptic encephalopathy 26

OBO ID: DOID:0080461

Term Name:	developmental and epileptic encephalopathy 26		Search Ontology:
Synonyms:	DEE26 early infantile epileptic encephalopathy 26
Definition:	A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/25164438
References:	GARD:12391 OMIM:616056
Ontology:	Human Disease ( DOID:0080461 )

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 26 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KCNB1	kcnb1	Developmental and epileptic encephalopathy 26	616056

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None