developmental and epileptic encephalopathy 7

Term ID

DOID:0080462

Synonyms

• early infantile epileptic encephalopathy 7
• KCNQ2-related epileptic encephalopathy
• KCNQ2-related neonatal epileptic encephalopathy

Definition

A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/15249611

References

• OMIM:613720
• ORDO:439218

Ontology

Human Disease   ( DOID:0080462 )