Term Name: developmental and epileptic encephalopathy 6B
Synonyms: DEE6B
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.
Ontology: Human Disease [DOID:0070379]   ( DOID:0070379 )

Relationships
is a type of: autosomal dominant disease developmental and epileptic encephalopathy