A case of De Novo NAA10 mutation presenting with eyelid myoclonias (AKA Jeavons syndrome)

We report an unusual seizure phenotype in a girl with a de novo NAA10 pathogenic variant. X-linked NAA10 variants have been previously reported with syndromic, as well as non-syndromic intellectual disability, microcephaly, cardiac abnormalities and dysmorphisms. Defects in NAA10 have been delineated to cause Ogden syndrome, also known as n-terminal acetyl transferase deficiency (NATD). Ogden syndrome is an extremely rare X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, neonatal hypotonia progressing to hypertonia and diffuse cerebral atrophy.

Source: Seizure: European Journal of Epilepsy - June 18, 2018 Category: Neurology Authors: Vinod Valentine, Yoshimi Sogawa, Deepa Rajan, Damara Ortiz Source Type: research