Hubert Kubiszewski

CASE REPORT: PURA SYNDROME CAUSED BY A DE NOVO c.345_346del VARIANT IN A 6-YEAR-OLD BOY WITH REFRACTORY EPILEPSY AND DIAGNOSTIC DELAY

Background: PURA syndrome is a rare neurodevelopmental disorder caused by heterozygous pathogenic variants in the PURA gene, characterized by neonatal hypotonia, epilepsy, and developmental delay. Diagnostic delay is common when acquired neonatal insults co-exist and mask the underlying genetic etiology. Methods: We de...