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DOID DOID:0080472
Name infantile or early childhood epileptic encephalopathy 1
Definition An electroclinical syndrome characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24.
https://www.ncbi.nlm.nih.gov/pubmed/28942967
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OMIM:617711

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is_a electroclinical syndrome

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