developmental and epileptic encephalopathy 6B (DOID:0070379)
Alliance: disease page
Synonyms: DEE6B
Alt IDs: OMIM:619317
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.