PMC:4375449 / 9237-9864 JSONTXT

{"project":"2_test","denotations":[{"id":"25728773-20118933-2048969","span":{"begin":181,"end":183},"obj":"20118933"},{"id":"25728773-23224214-2048970","span":{"begin":383,"end":385},"obj":"23224214"}],"text":"Mutations in PNKP were originally found to cause early infantile epileptic encephalopathy-10 (EIEE10 [MIM 613402]), characterized by microcephaly, seizures, and developmental delay.13 More recently, this gene was associated with cerebellar atrophy in two Dutch siblings who had progressive debilitating polyneuropathy, microcephaly, severe intellectual disability, and mild epilepsy.14 No ocular signs were described in those Dutch cases. None of the individuals we studied had microcephaly or epilepsy; cognitive impairment was observed in most but not all individuals (although it progressed to severe dementia in two cases)."}