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DOID DOID:0080455
Name early infantile epileptic encephalopathy 52
Definition An early infantile epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13.
https://www.ncbi.nlm.nih.gov/pubmed/19710327
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OMIM:617350

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is_a early infantile epileptic encephalopathy

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