ZFIN Human Disease: Dravet syndrome

OBO ID: DOID:0080422

Term Name:	Dravet syndrome		Search Ontology:
Synonyms:	DEE6 DEE6A developmental and epileptic encephalopathy 6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 severe myoclonic epilepsy of infancy
Definition:	A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. (3)
References:	GARD:10430 OMIM:607208 ORDO:33069
Ontology:	Human Disease ( DOID:0080422 )

Relationships

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

OTHER Dravet syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SCN1A	scn1laa	Dravet syndrome	607208

ZEBRAFISH MODELS

Fish	Conditions	Citations
scn1laa^{sa1674/sa1674} (TL)	control	Griffin et al., 2017
scn1lab^s552/s552	standard conditions	(3)
scn1lab^s552/s552	standard conditions	(2)
scn1lab^s552/s552 (TL)	control	(2)
	standard conditions	(3)
scn1lab^{uio202/uio202} (AB)	standard conditions	Tiraboschi et al., 2020
scn1lab^zu1/zu1	standard conditions	Weuring et al., 2020
WT + MO2-scn1lab	standard conditions	Brenet et al., 2019
scn1lab^s552/s552; ot1Tg	standard conditions	Grone et al., 2017

PHENOTYPE No data available

CITATIONS (18)