FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term developmental and epileptic encephalopathy 6B ID (Ontology) DOID:0070379 (Human Disease)
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.
Also Known As "DEE6B"
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 Genes
 developmental and epileptic encephalopathy 6B       1
 for disease ribbon | developmental and epileptic encephalopathy 6B       1
 model of | developmental and epileptic encephalopathy 6B       1
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal dominant disease__________________|
                                                developmental and epileptic encephalopathy 6B  1 rec.
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Is a autosomal dominant disease
developmental and epileptic encephalopathy
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Synonyms
  • "DEE6B" EXACT OMO:0003012
Secondary IDs
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MIM:619317