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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	MIM:617938
Synonyms	DEE62 [EXACT] early infantile epileptic encephalopathy 62 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal dominant disease