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Metadata
ID DOID:0080420
Name developmental and 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
Xrefs

OMIM:617938

Synonyms

DEE62 [EXACT]

early infantile epileptic encephalopathy 62 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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