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Metadata
ID DOID:0080455
Name developmental and epileptic encephalopathy 52
Definition A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13.
https://www.ncbi.nlm.nih.gov/pubmed/19710327
Xrefs

OMIM:617350

Synonyms

DEE52 [EXACT]

early infantile epileptic encephalopathy 52 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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