Version: 8.1.0
Date: Fri Apr 18 2025
developmental and epileptic encephalopathy 6B
DOID:0070379
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • DEE6B
Cross References
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