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Human Disease

developmental and epileptic encephalopathy 62

Term ID
DOID:0080420
Synonyms
  • DEE62
  • early infantile 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
References
Ontology
Human Disease   ( DOID:0080420 )
Relationships
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Genes Involved
Zebrafish Models