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Metadata
ID DOID:0080462
Name developmental and epileptic encephalopathy 7
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
Xrefs

OMIM:613720

ORDO:439218

Synonyms

early infantile epileptic encephalopathy 7 [EXACT]

KCNQ2-related epileptic encephalopathy [EXACT]

KCNQ2-related neonatal epileptic encephalopathy [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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