Metadata | |
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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 | |
Synonyms |
DEE6B [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |