_:vb50940985 "A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13."^^ . _:vb50940985 . _:vb50940985 . _:vb50940985 . _:vb50940985 "url:https://www.ncbi.nlm.nih.gov/pubmed/23224214"^^ . _:vb50940985 . _:vb50940985 "url:https://www.ncbi.nlm.nih.gov/pubmed/20118933"^^ . _:vb50940985 .