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Metadata
ID DOID:0080439
Name developmental and epileptic encephalopathy 14
Definition A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.
https://www.ncbi.nlm.nih.gov/pubmed/23086397
Xrefs

OMIM:614959

Synonyms

DEE14 [EXACT]

early infantile epileptic encephalopathy 14 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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