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Statements

Subject Item

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A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/18469812 url:https://pubmed.ncbi.nlm.nih.gov/19557857/