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DOID DOID:0080460
Name early infantile epileptic encephalopathy 34
Definition An early infantile epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12.
https://www.ncbi.nlm.nih.gov/pubmed/26333769
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OMIM:616645

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is_a early infantile epileptic encephalopathy

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