developmental and epileptic encephalopathy 62

Term ID

DOID:0080420

Synonyms

• DEE62
• early infantile epileptic encephalopathy 62

Definition

A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. https://www.ncbi.nlm.nih.gov/pubmed/29466837

References

• OMIM:617938

Ontology

Human Disease   ( DOID:0080420 )