Visualize Submit Comment

Metadata
ID	DOID:0070379
Name	developmental and epileptic encephalopathy 6B
Definition	A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. This disease has the same genetic basis as Dravet syndrome (DOID:0080422) but is more severe. https://pubmed.ncbi.nlm.nih.gov/28794249/
Xrefs	MIM:619317
Synonyms	DEE6B [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a developmental and epileptic encephalopathy
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance