Term Name: | developmental and epileptic encephalopathy 6B |
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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 ) |