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Metadata
ID DOID:0070379
Name 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.
https://pubmed.ncbi.nlm.nih.gov/28794249/
Xrefs

MIM:619317

Synonyms

DEE6B [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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