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Human Disease

developmental and epileptic encephalopathy 6B

Term ID
DOID:0070379
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. https://pubmed.ncbi.nlm.nih.gov/28794249/
References
Ontology
Human Disease   ( DOID:0070379 )
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