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

• OMIM:619317

Ontology

Human Disease   ( DOID:0070379 )